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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3817466

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:5410575 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.264128 (69912/264690, TOPMED)
A=0.138578 (34756/250804, GnomAD_exome)
A=0.110831 (19675/177522, ALFA) (+ 21 more)
A=0.247733 (34702/140078, GnomAD)
A=0.146908 (17827/121348, ExAC)
A=0.09328 (2636/28258, 14KJPN)
A=0.09087 (1523/16760, 8.3KJPN)
A=0.2997 (1919/6404, 1000G_30x)
A=0.2883 (1444/5008, 1000G)
A=0.0453 (203/4480, Estonian)
A=0.0771 (297/3854, ALSPAC)
A=0.0715 (265/3708, TWINSUK)
A=0.0959 (281/2930, KOREAN)
A=0.3489 (658/1886, HapMap)
A=0.0977 (179/1832, Korea1K)
A=0.067 (67/998, GoNL)
A=0.080 (49/614, Vietnamese)
A=0.092 (55/600, NorthernSweden)
A=0.118 (63/534, MGP)
A=0.122 (61/502, SGDP_PRJ)
A=0.056 (17/304, FINRISK)
A=0.208 (45/216, Qatari)
A=0.12 (7/56, Siberian)
A=0.03 (1/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EPB41L3 : Synonymous Variant
Publications
1 citation
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 193474 A=0.121908 G=0.878092
European Sub 159084 A=0.083365 G=0.916635
African Sub 12106 A=0.59119 G=0.40881
African Others Sub 434 A=0.705 G=0.295
African American Sub 11672 A=0.58696 G=0.41304
Asian Sub 684 A=0.091 G=0.909
East Asian Sub 522 A=0.077 G=0.923
Other Asian Sub 162 A=0.136 G=0.864
Latin American 1 Sub 1102 A=0.2740 G=0.7260
Latin American 2 Sub 6332 A=0.1439 G=0.8561
South Asian Sub 184 A=0.147 G=0.853
Other Sub 13982 A=0.13339 G=0.86661


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.264128 G=0.735872
gnomAD - Exomes Global Study-wide 250804 A=0.138578 G=0.861422
gnomAD - Exomes European Sub 135182 A=0.077976 G=0.922024
gnomAD - Exomes Asian Sub 48882 A=0.15259 G=0.84741
gnomAD - Exomes American Sub 34318 A=0.14447 G=0.85553
gnomAD - Exomes African Sub 16232 A=0.62518 G=0.37482
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=0.09704 G=0.90296
gnomAD - Exomes Other Sub 6112 A=0.1099 G=0.8901
Allele Frequency Aggregator Total Global 177522 A=0.110831 G=0.889169
Allele Frequency Aggregator European Sub 149382 A=0.083779 G=0.916221
Allele Frequency Aggregator Other Sub 12562 A=0.12777 G=0.87223
Allele Frequency Aggregator African Sub 7276 A=0.5845 G=0.4155
Allele Frequency Aggregator Latin American 2 Sub 6332 A=0.1439 G=0.8561
Allele Frequency Aggregator Latin American 1 Sub 1102 A=0.2740 G=0.7260
Allele Frequency Aggregator Asian Sub 684 A=0.091 G=0.909
Allele Frequency Aggregator South Asian Sub 184 A=0.147 G=0.853
gnomAD - Genomes Global Study-wide 140078 A=0.247733 G=0.752267
gnomAD - Genomes European Sub 75886 A=0.07905 G=0.92095
gnomAD - Genomes African Sub 41944 A=0.60562 G=0.39438
gnomAD - Genomes American Sub 13642 A=0.16420 G=0.83580
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.0930 G=0.9070
gnomAD - Genomes East Asian Sub 3130 A=0.0837 G=0.9163
gnomAD - Genomes Other Sub 2154 A=0.2275 G=0.7725
ExAC Global Study-wide 121348 A=0.146908 G=0.853092
ExAC Europe Sub 73330 A=0.07901 G=0.92099
ExAC Asian Sub 25146 A=0.15215 G=0.84785
ExAC American Sub 11568 A=0.14298 G=0.85702
ExAC African Sub 10396 A=0.62043 G=0.37957
ExAC Other Sub 908 A=0.113 G=0.887
14KJPN JAPANESE Study-wide 28258 A=0.09328 G=0.90672
8.3KJPN JAPANESE Study-wide 16760 A=0.09087 G=0.90913
1000Genomes_30x Global Study-wide 6404 A=0.2997 G=0.7003
1000Genomes_30x African Sub 1786 A=0.7290 G=0.2710
1000Genomes_30x Europe Sub 1266 A=0.0798 G=0.9202
1000Genomes_30x South Asian Sub 1202 A=0.1997 G=0.8003
1000Genomes_30x East Asian Sub 1170 A=0.0829 G=0.9171
1000Genomes_30x American Sub 980 A=0.183 G=0.817
1000Genomes Global Study-wide 5008 A=0.2883 G=0.7117
1000Genomes African Sub 1322 A=0.7209 G=0.2791
1000Genomes East Asian Sub 1008 A=0.0823 G=0.9177
1000Genomes Europe Sub 1006 A=0.0865 G=0.9135
1000Genomes South Asian Sub 978 A=0.197 G=0.803
1000Genomes American Sub 694 A=0.184 G=0.816
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.0453 G=0.9547
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.0771 G=0.9229
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.0715 G=0.9285
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0959 C=0.0000, G=0.9041, T=0.0000
HapMap Global Study-wide 1886 A=0.3489 G=0.6511
HapMap American Sub 766 A=0.184 G=0.816
HapMap African Sub 692 A=0.686 G=0.314
HapMap Asian Sub 252 A=0.095 G=0.905
HapMap Europe Sub 176 A=0.102 G=0.898
Korean Genome Project KOREAN Study-wide 1832 A=0.0977 G=0.9023
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.067 G=0.933
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.080 G=0.920
Northern Sweden ACPOP Study-wide 600 A=0.092 G=0.908
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.118 G=0.882
SGDP_PRJ Global Study-wide 502 A=0.122 G=0.878
FINRISK Finnish from FINRISK project Study-wide 304 A=0.056 G=0.944
Qatari Global Study-wide 216 A=0.208 G=0.792
Siberian Global Study-wide 56 A=0.12 G=0.88
The Danish reference pan genome Danish Study-wide 40 A=0.03 G=0.97
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 18 NC_000018.10:g.5410575A>C
GRCh38.p14 chr 18 NC_000018.10:g.5410575A>G
GRCh38.p14 chr 18 NC_000018.10:g.5410575A>T
GRCh37.p13 chr 18 NC_000018.9:g.5410574A>C
GRCh37.p13 chr 18 NC_000018.9:g.5410574A>G
GRCh37.p13 chr 18 NC_000018.9:g.5410574A>T
Gene: EPB41L3, erythrocyte membrane protein band 4.1 like 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EPB41L3 transcript variant 4 NM_001281535.2:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001268464.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 4 NM_001281535.2:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001268464.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 4 NM_001281535.2:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001268464.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 25 NM_001384701.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 20 NP_001371630.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 25 NM_001384701.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 20 NP_001371630.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 25 NM_001384701.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 20 NP_001371630.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 26 NM_001384702.1:c.1224T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 21 NP_001371631.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 26 NM_001384702.1:c.1224T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 21 NP_001371631.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 26 NM_001384702.1:c.1224T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 21 NP_001371631.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 1 NM_012307.5:c.2112T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 1 NP_036439.2:p.Thr704= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 1 NM_012307.5:c.2112T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 1 NP_036439.2:p.Thr704= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 1 NM_012307.5:c.2112T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 1 NP_036439.2:p.Thr704= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 7 NM_001384683.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001371612.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 7 NM_001384683.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001371612.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 7 NM_001384683.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 4 NP_001371612.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 18 NM_001384694.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 13 NP_001371623.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 18 NM_001384694.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 13 NP_001371623.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 18 NM_001384694.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 13 NP_001371623.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 11 NM_001384687.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371616.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 11 NM_001384687.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371616.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 11 NM_001384687.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371616.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 10 NM_001384686.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 7 NP_001371615.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 10 NM_001384686.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 7 NP_001371615.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 10 NM_001384686.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 7 NP_001371615.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 14 NM_001384690.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371619.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 14 NM_001384690.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371619.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 14 NM_001384690.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371619.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 5 NM_001330557.2:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001317486.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 5 NM_001330557.2:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001317486.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 5 NM_001330557.2:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001317486.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 13 NM_001384689.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371618.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 13 NM_001384689.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371618.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 13 NM_001384689.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 9 NP_001371618.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 24 NM_001384700.1:c.1224T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 19 NP_001371629.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 24 NM_001384700.1:c.1224T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 19 NP_001371629.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 24 NM_001384700.1:c.1224T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 19 NP_001371629.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 3 NM_001281534.3:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 3 NP_001268463.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 3 NM_001281534.3:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 3 NP_001268463.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 3 NM_001281534.3:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 3 NP_001268463.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 12 NM_001384688.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371617.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 12 NM_001384688.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371617.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 12 NM_001384688.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 8 NP_001371617.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 19 NM_001384695.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 14 NP_001371624.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 19 NM_001384695.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 14 NP_001371624.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 19 NM_001384695.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 14 NP_001371624.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 29 NM_001384705.1:c.1224T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 24 NP_001371634.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 29 NM_001384705.1:c.1224T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 24 NP_001371634.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 29 NM_001384705.1:c.1224T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 24 NP_001371634.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 22 NM_001384698.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 17 NP_001371627.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 22 NM_001384698.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 17 NP_001371627.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 22 NM_001384698.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 17 NP_001371627.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 17 NM_001384693.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 12 NP_001371622.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 17 NM_001384693.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 12 NP_001371622.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 17 NM_001384693.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 12 NP_001371622.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 8 NM_001384684.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001371613.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 8 NM_001384684.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001371613.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 8 NM_001384684.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 5 NP_001371613.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 30 NM_001384706.1:c.1224T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 25 NP_001371635.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 30 NM_001384706.1:c.1224T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 25 NP_001371635.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 30 NM_001384706.1:c.1224T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 25 NP_001371635.1:p.Thr408= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 23 NM_001384699.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 18 NP_001371628.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 23 NM_001384699.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 18 NP_001371628.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 23 NM_001384699.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 18 NP_001371628.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 21 NM_001384697.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 16 NP_001371626.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 21 NM_001384697.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 16 NP_001371626.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 21 NM_001384697.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 16 NP_001371626.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 27 NM_001384703.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 22 NP_001371632.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 27 NM_001384703.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 22 NP_001371632.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 27 NM_001384703.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 22 NP_001371632.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 6 NM_001384682.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001371611.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 6 NM_001384682.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001371611.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 6 NM_001384682.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001371611.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 2 NM_001281533.2:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001268462.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 2 NM_001281533.2:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001268462.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 2 NM_001281533.2:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 2 NP_001268462.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 20 NM_001384696.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 15 NP_001371625.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 20 NM_001384696.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 15 NP_001371625.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 20 NM_001384696.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 15 NP_001371625.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 15 NM_001384691.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 10 NP_001371620.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 15 NM_001384691.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 10 NP_001371620.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 15 NM_001384691.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 10 NP_001371620.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 9 NM_001384685.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 6 NP_001371614.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 9 NM_001384685.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 6 NP_001371614.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 9 NM_001384685.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 6 NP_001371614.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 16 NM_001384692.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 11 NP_001371621.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 16 NM_001384692.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 11 NP_001371621.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 16 NM_001384692.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 11 NP_001371621.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 28 NM_001384704.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform 23 NP_001371633.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 28 NM_001384704.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform 23 NP_001371633.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant 28 NM_001384704.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform 23 NP_001371633.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X23 XM_017025631.2:c.1561-360…

XM_017025631.2:c.1561-3607T>G

 		N/A Intron Variant
EPB41L3 transcript variant X20 XM_047437375.1:c.1561-360…

XM_047437375.1:c.1561-3607T>G

 		N/A Intron Variant
EPB41L3 transcript variant X24 XM_047437377.1:c.1561-360…

XM_047437377.1:c.1561-3607T>G

 		N/A Intron Variant
EPB41L3 transcript variant X30 XM_047437383.1:c.1561-360…

XM_047437383.1:c.1561-3607T>G

 		N/A Intron Variant
EPB41L3 transcript variant X17 XM_017025619.2:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X17 XP_016881108.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X17 XM_017025619.2:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X17 XP_016881108.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X17 XM_017025619.2:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X17 XP_016881108.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X21 XM_017025626.2:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X21 XP_016881115.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X21 XM_017025626.2:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X21 XP_016881115.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X21 XM_017025626.2:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X21 XP_016881115.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X1 XM_047437358.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X1 XP_047293314.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X1 XM_047437358.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X1 XP_047293314.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X1 XM_047437358.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X1 XP_047293314.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X2 XM_047437359.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X2 XP_047293315.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X2 XM_047437359.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X2 XP_047293315.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X2 XM_047437359.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X2 XP_047293315.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X3 XM_047437360.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X3 XP_047293316.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X3 XM_047437360.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X3 XP_047293316.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X3 XM_047437360.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X3 XP_047293316.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X4 XM_047437361.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X4 XP_047293317.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X4 XM_047437361.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X4 XP_047293317.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X4 XM_047437361.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X4 XP_047293317.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X5 XM_047437362.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X5 XP_047293318.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X5 XM_047437362.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X5 XP_047293318.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X5 XM_047437362.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X5 XP_047293318.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X6 XM_047437363.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X6 XP_047293319.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X6 XM_047437363.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X6 XP_047293319.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X6 XM_047437363.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X6 XP_047293319.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X7 XM_047437364.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X7 XP_047293320.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X7 XM_047437364.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X7 XP_047293320.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X7 XM_047437364.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X7 XP_047293320.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X8 XM_047437365.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X8 XP_047293321.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X8 XM_047437365.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X8 XP_047293321.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X8 XM_047437365.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X8 XP_047293321.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X9 XM_047437366.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X9 XP_047293322.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X9 XM_047437366.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X9 XP_047293322.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X9 XM_047437366.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X9 XP_047293322.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X10 XM_047437367.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X10 XP_047293323.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X10 XM_047437367.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X10 XP_047293323.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X10 XM_047437367.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X10 XP_047293323.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X11 XM_047437368.1:c.2166T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X11 XP_047293324.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X11 XM_047437368.1:c.2166T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X11 XP_047293324.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X11 XM_047437368.1:c.2166T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X11 XP_047293324.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X12 XM_047437369.1:c.1839T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X12 XP_047293325.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X12 XM_047437369.1:c.1839T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X12 XP_047293325.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X12 XM_047437369.1:c.1839T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X12 XP_047293325.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X13 XM_047437370.1:c.1785T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X13 XP_047293326.1:p.Thr595= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X13 XM_047437370.1:c.1785T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X13 XP_047293326.1:p.Thr595= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X13 XM_047437370.1:c.1785T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X13 XP_047293326.1:p.Thr595= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X14 XM_047437371.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X14 XP_047293327.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X14 XM_047437371.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X14 XP_047293327.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X14 XM_047437371.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X14 XP_047293327.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X15 XM_047437372.1:c.1839T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X15 XP_047293328.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X15 XM_047437372.1:c.1839T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X15 XP_047293328.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X15 XM_047437372.1:c.1839T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X15 XP_047293328.1:p.Thr613= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X16 XM_047437373.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X16 XP_047293329.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X16 XM_047437373.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X16 XP_047293329.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X16 XM_047437373.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X16 XP_047293329.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X18 XM_017025620.3:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X18 XP_016881109.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X18 XM_017025620.3:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X18 XP_016881109.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X18 XM_017025620.3:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X18 XP_016881109.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X19 XM_047437374.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X19 XP_047293330.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X19 XM_047437374.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X19 XP_047293330.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X19 XM_047437374.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X19 XP_047293330.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X22 XM_047437376.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X22 XP_047293332.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X22 XM_047437376.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X22 XP_047293332.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X22 XM_047437376.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X22 XP_047293332.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X25 XM_047437378.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X25 XP_047293334.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X25 XM_047437378.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X25 XP_047293334.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X25 XM_047437378.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X25 XP_047293334.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X26 XM_047437379.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X26 XP_047293335.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X26 XM_047437379.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X26 XP_047293335.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X26 XM_047437379.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X26 XP_047293335.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X27 XM_047437380.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X27 XP_047293336.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X27 XM_047437380.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X27 XP_047293336.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X27 XM_047437380.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X27 XP_047293336.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X28 XM_047437381.1:c.1605T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X28 XP_047293337.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X28 XM_047437381.1:c.1605T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X28 XP_047293337.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X28 XM_047437381.1:c.1605T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X28 XP_047293337.1:p.Thr535= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X29 XM_047437382.1:c.1551T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X29 XP_047293338.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X29 XM_047437382.1:c.1551T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X29 XP_047293338.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X29 XM_047437382.1:c.1551T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X29 XP_047293338.1:p.Thr517= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X31 XM_047437384.1:c.1278T>G T [ACT] > T [ACG] Coding Sequence Variant
band 4.1-like protein 3 isoform X31 XP_047293340.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X31 XM_047437384.1:c.1278T>C T [ACT] > T [ACC] Coding Sequence Variant
band 4.1-like protein 3 isoform X31 XP_047293340.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
EPB41L3 transcript variant X31 XM_047437384.1:c.1278T>A T [ACT] > T [ACA] Coding Sequence Variant
band 4.1-like protein 3 isoform X31 XP_047293340.1:p.Thr426= T (Thr) > T (Thr) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T
GRCh38.p14 chr 18 NC_000018.10:g.5410575= NC_000018.10:g.5410575A>C NC_000018.10:g.5410575A>G NC_000018.10:g.5410575A>T
GRCh37.p13 chr 18 NC_000018.9:g.5410574= NC_000018.9:g.5410574A>C NC_000018.9:g.5410574A>G NC_000018.9:g.5410574A>T
EPB41L3 transcript variant 1 NM_012307.5:c.2112= NM_012307.5:c.2112T>G NM_012307.5:c.2112T>C NM_012307.5:c.2112T>A
EPB41L3 transcript variant 1 NM_012307.4:c.2112= NM_012307.4:c.2112T>G NM_012307.4:c.2112T>C NM_012307.4:c.2112T>A
EPB41L3 transcript variant 1 NM_012307.3:c.2112= NM_012307.3:c.2112T>G NM_012307.3:c.2112T>C NM_012307.3:c.2112T>A
EPB41L3 transcript variant 3 NM_001281534.3:c.1605= NM_001281534.3:c.1605T>G NM_001281534.3:c.1605T>C NM_001281534.3:c.1605T>A
EPB41L3 transcript variant 3 NM_001281534.2:c.1605= NM_001281534.2:c.1605T>G NM_001281534.2:c.1605T>C NM_001281534.2:c.1605T>A
EPB41L3 transcript variant 3 NM_001281534.1:c.1605= NM_001281534.1:c.1605T>G NM_001281534.1:c.1605T>C NM_001281534.1:c.1605T>A
EPB41L3 transcript variant X18 XM_017025620.3:c.1605= XM_017025620.3:c.1605T>G XM_017025620.3:c.1605T>C XM_017025620.3:c.1605T>A
EPB41L3 transcript variant X6 XM_017025620.2:c.1605= XM_017025620.2:c.1605T>G XM_017025620.2:c.1605T>C XM_017025620.2:c.1605T>A
EPB41L3 transcript variant X6 XM_017025620.1:c.1605= XM_017025620.1:c.1605T>G XM_017025620.1:c.1605T>C XM_017025620.1:c.1605T>A
EPB41L3 transcript variant 5 NM_001330557.2:c.1605= NM_001330557.2:c.1605T>G NM_001330557.2:c.1605T>C NM_001330557.2:c.1605T>A
EPB41L3 transcript variant 5 NM_001330557.1:c.1605= NM_001330557.1:c.1605T>G NM_001330557.1:c.1605T>C NM_001330557.1:c.1605T>A
EPB41L3 transcript variant 4 NM_001281535.2:c.1278= NM_001281535.2:c.1278T>G NM_001281535.2:c.1278T>C NM_001281535.2:c.1278T>A
EPB41L3 transcript variant 4 NM_001281535.1:c.1278= NM_001281535.1:c.1278T>G NM_001281535.1:c.1278T>C NM_001281535.1:c.1278T>A
EPB41L3 transcript variant 2 NM_001281533.2:c.1605= NM_001281533.2:c.1605T>G NM_001281533.2:c.1605T>C NM_001281533.2:c.1605T>A
EPB41L3 transcript variant 2 NM_001281533.1:c.1605= NM_001281533.1:c.1605T>G NM_001281533.1:c.1605T>C NM_001281533.1:c.1605T>A
EPB41L3 transcript variant X17 XM_017025619.2:c.1605= XM_017025619.2:c.1605T>G XM_017025619.2:c.1605T>C XM_017025619.2:c.1605T>A
EPB41L3 transcript variant X5 XM_017025619.1:c.1605= XM_017025619.1:c.1605T>G XM_017025619.1:c.1605T>C XM_017025619.1:c.1605T>A
EPB41L3 transcript variant X21 XM_017025626.2:c.1605= XM_017025626.2:c.1605T>G XM_017025626.2:c.1605T>C XM_017025626.2:c.1605T>A
EPB41L3 transcript variant X14 XM_017025626.1:c.1605= XM_017025626.1:c.1605T>G XM_017025626.1:c.1605T>C XM_017025626.1:c.1605T>A
EPB41L3 transcript variant X15 XM_047437372.1:c.1839= XM_047437372.1:c.1839T>G XM_047437372.1:c.1839T>C XM_047437372.1:c.1839T>A
EPB41L3 transcript variant 9 NM_001384685.1:c.2166= NM_001384685.1:c.2166T>G NM_001384685.1:c.2166T>C NM_001384685.1:c.2166T>A
EPB41L3 transcript variant X4 XM_047437361.1:c.2166= XM_047437361.1:c.2166T>G XM_047437361.1:c.2166T>C XM_047437361.1:c.2166T>A
EPB41L3 transcript variant X7 XM_047437364.1:c.2166= XM_047437364.1:c.2166T>G XM_047437364.1:c.2166T>C XM_047437364.1:c.2166T>A
EPB41L3 transcript variant X9 XM_047437366.1:c.2166= XM_047437366.1:c.2166T>G XM_047437366.1:c.2166T>C XM_047437366.1:c.2166T>A
EPB41L3 transcript variant X10 XM_047437367.1:c.2166= XM_047437367.1:c.2166T>G XM_047437367.1:c.2166T>C XM_047437367.1:c.2166T>A
EPB41L3 transcript variant X11 XM_047437368.1:c.2166= XM_047437368.1:c.2166T>G XM_047437368.1:c.2166T>C XM_047437368.1:c.2166T>A
EPB41L3 transcript variant 22 NM_001384698.1:c.1278= NM_001384698.1:c.1278T>G NM_001384698.1:c.1278T>C NM_001384698.1:c.1278T>A
EPB41L3 transcript variant 23 NM_001384699.1:c.1278= NM_001384699.1:c.1278T>G NM_001384699.1:c.1278T>C NM_001384699.1:c.1278T>A
EPB41L3 transcript variant 24 NM_001384700.1:c.1224= NM_001384700.1:c.1224T>G NM_001384700.1:c.1224T>C NM_001384700.1:c.1224T>A
EPB41L3 transcript variant 25 NM_001384701.1:c.1278= NM_001384701.1:c.1278T>G NM_001384701.1:c.1278T>C NM_001384701.1:c.1278T>A
EPB41L3 transcript variant 26 NM_001384702.1:c.1224= NM_001384702.1:c.1224T>G NM_001384702.1:c.1224T>C NM_001384702.1:c.1224T>A
EPB41L3 transcript variant 27 NM_001384703.1:c.1278= NM_001384703.1:c.1278T>G NM_001384703.1:c.1278T>C NM_001384703.1:c.1278T>A
EPB41L3 transcript variant 28 NM_001384704.1:c.1278= NM_001384704.1:c.1278T>G NM_001384704.1:c.1278T>C NM_001384704.1:c.1278T>A
EPB41L3 transcript variant 8 NM_001384684.1:c.1605= NM_001384684.1:c.1605T>G NM_001384684.1:c.1605T>C NM_001384684.1:c.1605T>A
EPB41L3 transcript variant 29 NM_001384705.1:c.1224= NM_001384705.1:c.1224T>G NM_001384705.1:c.1224T>C NM_001384705.1:c.1224T>A
EPB41L3 transcript variant 7 NM_001384683.1:c.1278= NM_001384683.1:c.1278T>G NM_001384683.1:c.1278T>C NM_001384683.1:c.1278T>A
EPB41L3 transcript variant 30 NM_001384706.1:c.1224= NM_001384706.1:c.1224T>G NM_001384706.1:c.1224T>C NM_001384706.1:c.1224T>A
EPB41L3 transcript variant 12 NM_001384688.1:c.1551= NM_001384688.1:c.1551T>G NM_001384688.1:c.1551T>C NM_001384688.1:c.1551T>A
EPB41L3 transcript variant 10 NM_001384686.1:c.1605= NM_001384686.1:c.1605T>G NM_001384686.1:c.1605T>C NM_001384686.1:c.1605T>A
EPB41L3 transcript variant 14 NM_001384690.1:c.1605= NM_001384690.1:c.1605T>G NM_001384690.1:c.1605T>C NM_001384690.1:c.1605T>A
EPB41L3 transcript variant 11 NM_001384687.1:c.1551= NM_001384687.1:c.1551T>G NM_001384687.1:c.1551T>C NM_001384687.1:c.1551T>A
EPB41L3 transcript variant 13 NM_001384689.1:c.1605= NM_001384689.1:c.1605T>G NM_001384689.1:c.1605T>C NM_001384689.1:c.1605T>A
EPB41L3 transcript variant X31 XM_047437384.1:c.1278= XM_047437384.1:c.1278T>G XM_047437384.1:c.1278T>C XM_047437384.1:c.1278T>A
EPB41L3 transcript variant 6 NM_001384682.1:c.1605= NM_001384682.1:c.1605T>G NM_001384682.1:c.1605T>C NM_001384682.1:c.1605T>A
EPB41L3 transcript variant 15 NM_001384691.1:c.1605= NM_001384691.1:c.1605T>G NM_001384691.1:c.1605T>C NM_001384691.1:c.1605T>A
EPB41L3 transcript variant 16 NM_001384692.1:c.1551= NM_001384692.1:c.1551T>G NM_001384692.1:c.1551T>C NM_001384692.1:c.1551T>A
EPB41L3 transcript variant 17 NM_001384693.1:c.1605= NM_001384693.1:c.1605T>G NM_001384693.1:c.1605T>C NM_001384693.1:c.1605T>A
EPB41L3 transcript variant 18 NM_001384694.1:c.1551= NM_001384694.1:c.1551T>G NM_001384694.1:c.1551T>C NM_001384694.1:c.1551T>A
EPB41L3 transcript variant X25 XM_047437378.1:c.1605= XM_047437378.1:c.1605T>G XM_047437378.1:c.1605T>C XM_047437378.1:c.1605T>A
EPB41L3 transcript variant 19 NM_001384695.1:c.1605= NM_001384695.1:c.1605T>G NM_001384695.1:c.1605T>C NM_001384695.1:c.1605T>A
EPB41L3 transcript variant 20 NM_001384696.1:c.1551= NM_001384696.1:c.1551T>G NM_001384696.1:c.1551T>C NM_001384696.1:c.1551T>A
EPB41L3 transcript variant 21 NM_001384697.1:c.1605= NM_001384697.1:c.1605T>G NM_001384697.1:c.1605T>C NM_001384697.1:c.1605T>A
EPB41L3 transcript variant X27 XM_047437380.1:c.1605= XM_047437380.1:c.1605T>G XM_047437380.1:c.1605T>C XM_047437380.1:c.1605T>A
EPB41L3 transcript variant X28 XM_047437381.1:c.1605= XM_047437381.1:c.1605T>G XM_047437381.1:c.1605T>C XM_047437381.1:c.1605T>A
EPB41L3 transcript variant X29 XM_047437382.1:c.1551= XM_047437382.1:c.1551T>G XM_047437382.1:c.1551T>C XM_047437382.1:c.1551T>A
EPB41L3 transcript variant X12 XM_047437369.1:c.1839= XM_047437369.1:c.1839T>G XM_047437369.1:c.1839T>C XM_047437369.1:c.1839T>A
EPB41L3 transcript variant X13 XM_047437370.1:c.1785= XM_047437370.1:c.1785T>G XM_047437370.1:c.1785T>C XM_047437370.1:c.1785T>A
EPB41L3 transcript variant X1 XM_047437358.1:c.2166= XM_047437358.1:c.2166T>G XM_047437358.1:c.2166T>C XM_047437358.1:c.2166T>A
EPB41L3 transcript variant X2 XM_047437359.1:c.2166= XM_047437359.1:c.2166T>G XM_047437359.1:c.2166T>C XM_047437359.1:c.2166T>A
EPB41L3 transcript variant X3 XM_047437360.1:c.2166= XM_047437360.1:c.2166T>G XM_047437360.1:c.2166T>C XM_047437360.1:c.2166T>A
EPB41L3 transcript variant X5 XM_047437362.1:c.2166= XM_047437362.1:c.2166T>G XM_047437362.1:c.2166T>C XM_047437362.1:c.2166T>A
EPB41L3 transcript variant X6 XM_047437363.1:c.2166= XM_047437363.1:c.2166T>G XM_047437363.1:c.2166T>C XM_047437363.1:c.2166T>A
EPB41L3 transcript variant X8 XM_047437365.1:c.2166= XM_047437365.1:c.2166T>G XM_047437365.1:c.2166T>C XM_047437365.1:c.2166T>A
EPB41L3 transcript variant X26 XM_047437379.1:c.1278= XM_047437379.1:c.1278T>G XM_047437379.1:c.1278T>C XM_047437379.1:c.1278T>A
EPB41L3 transcript variant X16 XM_047437373.1:c.1605= XM_047437373.1:c.1605T>G XM_047437373.1:c.1605T>C XM_047437373.1:c.1605T>A
EPB41L3 transcript variant X14 XM_047437371.1:c.1605= XM_047437371.1:c.1605T>G XM_047437371.1:c.1605T>C XM_047437371.1:c.1605T>A
EPB41L3 transcript variant X19 XM_047437374.1:c.1551= XM_047437374.1:c.1551T>G XM_047437374.1:c.1551T>C XM_047437374.1:c.1551T>A
EPB41L3 transcript variant X22 XM_047437376.1:c.1551= XM_047437376.1:c.1551T>G XM_047437376.1:c.1551T>C XM_047437376.1:c.1551T>A
band 4.1-like protein 3 isoform 1 NP_036439.2:p.Thr704= NP_036439.2:p.Thr704= NP_036439.2:p.Thr704= NP_036439.2:p.Thr704=
band 4.1-like protein 3 isoform 3 NP_001268463.1:p.Thr535= NP_001268463.1:p.Thr535= NP_001268463.1:p.Thr535= NP_001268463.1:p.Thr535=
band 4.1-like protein 3 isoform X18 XP_016881109.1:p.Thr535= XP_016881109.1:p.Thr535= XP_016881109.1:p.Thr535= XP_016881109.1:p.Thr535=
band 4.1-like protein 3 isoform 5 NP_001317486.1:p.Thr535= NP_001317486.1:p.Thr535= NP_001317486.1:p.Thr535= NP_001317486.1:p.Thr535=
band 4.1-like protein 3 isoform 4 NP_001268464.1:p.Thr426= NP_001268464.1:p.Thr426= NP_001268464.1:p.Thr426= NP_001268464.1:p.Thr426=
band 4.1-like protein 3 isoform 2 NP_001268462.1:p.Thr535= NP_001268462.1:p.Thr535= NP_001268462.1:p.Thr535= NP_001268462.1:p.Thr535=
band 4.1-like protein 3 isoform X17 XP_016881108.1:p.Thr535= XP_016881108.1:p.Thr535= XP_016881108.1:p.Thr535= XP_016881108.1:p.Thr535=
band 4.1-like protein 3 isoform X21 XP_016881115.1:p.Thr535= XP_016881115.1:p.Thr535= XP_016881115.1:p.Thr535= XP_016881115.1:p.Thr535=
band 4.1-like protein 3 isoform X15 XP_047293328.1:p.Thr613= XP_047293328.1:p.Thr613= XP_047293328.1:p.Thr613= XP_047293328.1:p.Thr613=
band 4.1-like protein 3 isoform 6 NP_001371614.1:p.Thr722= NP_001371614.1:p.Thr722= NP_001371614.1:p.Thr722= NP_001371614.1:p.Thr722=
band 4.1-like protein 3 isoform X4 XP_047293317.1:p.Thr722= XP_047293317.1:p.Thr722= XP_047293317.1:p.Thr722= XP_047293317.1:p.Thr722=
band 4.1-like protein 3 isoform X7 XP_047293320.1:p.Thr722= XP_047293320.1:p.Thr722= XP_047293320.1:p.Thr722= XP_047293320.1:p.Thr722=
band 4.1-like protein 3 isoform X9 XP_047293322.1:p.Thr722= XP_047293322.1:p.Thr722= XP_047293322.1:p.Thr722= XP_047293322.1:p.Thr722=
band 4.1-like protein 3 isoform X10 XP_047293323.1:p.Thr722= XP_047293323.1:p.Thr722= XP_047293323.1:p.Thr722= XP_047293323.1:p.Thr722=
band 4.1-like protein 3 isoform X11 XP_047293324.1:p.Thr722= XP_047293324.1:p.Thr722= XP_047293324.1:p.Thr722= XP_047293324.1:p.Thr722=
band 4.1-like protein 3 isoform 17 NP_001371627.1:p.Thr426= NP_001371627.1:p.Thr426= NP_001371627.1:p.Thr426= NP_001371627.1:p.Thr426=
band 4.1-like protein 3 isoform 18 NP_001371628.1:p.Thr426= NP_001371628.1:p.Thr426= NP_001371628.1:p.Thr426= NP_001371628.1:p.Thr426=
band 4.1-like protein 3 isoform 19 NP_001371629.1:p.Thr408= NP_001371629.1:p.Thr408= NP_001371629.1:p.Thr408= NP_001371629.1:p.Thr408=
band 4.1-like protein 3 isoform 20 NP_001371630.1:p.Thr426= NP_001371630.1:p.Thr426= NP_001371630.1:p.Thr426= NP_001371630.1:p.Thr426=
band 4.1-like protein 3 isoform 21 NP_001371631.1:p.Thr408= NP_001371631.1:p.Thr408= NP_001371631.1:p.Thr408= NP_001371631.1:p.Thr408=
band 4.1-like protein 3 isoform 22 NP_001371632.1:p.Thr426= NP_001371632.1:p.Thr426= NP_001371632.1:p.Thr426= NP_001371632.1:p.Thr426=
band 4.1-like protein 3 isoform 23 NP_001371633.1:p.Thr426= NP_001371633.1:p.Thr426= NP_001371633.1:p.Thr426= NP_001371633.1:p.Thr426=
band 4.1-like protein 3 isoform 5 NP_001371613.1:p.Thr535= NP_001371613.1:p.Thr535= NP_001371613.1:p.Thr535= NP_001371613.1:p.Thr535=
band 4.1-like protein 3 isoform 24 NP_001371634.1:p.Thr408= NP_001371634.1:p.Thr408= NP_001371634.1:p.Thr408= NP_001371634.1:p.Thr408=
band 4.1-like protein 3 isoform 4 NP_001371612.1:p.Thr426= NP_001371612.1:p.Thr426= NP_001371612.1:p.Thr426= NP_001371612.1:p.Thr426=
band 4.1-like protein 3 isoform 25 NP_001371635.1:p.Thr408= NP_001371635.1:p.Thr408= NP_001371635.1:p.Thr408= NP_001371635.1:p.Thr408=
band 4.1-like protein 3 isoform 8 NP_001371617.1:p.Thr517= NP_001371617.1:p.Thr517= NP_001371617.1:p.Thr517= NP_001371617.1:p.Thr517=
band 4.1-like protein 3 isoform 7 NP_001371615.1:p.Thr535= NP_001371615.1:p.Thr535= NP_001371615.1:p.Thr535= NP_001371615.1:p.Thr535=
band 4.1-like protein 3 isoform 9 NP_001371619.1:p.Thr535= NP_001371619.1:p.Thr535= NP_001371619.1:p.Thr535= NP_001371619.1:p.Thr535=
band 4.1-like protein 3 isoform 8 NP_001371616.1:p.Thr517= NP_001371616.1:p.Thr517= NP_001371616.1:p.Thr517= NP_001371616.1:p.Thr517=
band 4.1-like protein 3 isoform 9 NP_001371618.1:p.Thr535= NP_001371618.1:p.Thr535= NP_001371618.1:p.Thr535= NP_001371618.1:p.Thr535=
band 4.1-like protein 3 isoform X31 XP_047293340.1:p.Thr426= XP_047293340.1:p.Thr426= XP_047293340.1:p.Thr426= XP_047293340.1:p.Thr426=
band 4.1-like protein 3 isoform 2 NP_001371611.1:p.Thr535= NP_001371611.1:p.Thr535= NP_001371611.1:p.Thr535= NP_001371611.1:p.Thr535=
band 4.1-like protein 3 isoform 10 NP_001371620.1:p.Thr535= NP_001371620.1:p.Thr535= NP_001371620.1:p.Thr535= NP_001371620.1:p.Thr535=
band 4.1-like protein 3 isoform 11 NP_001371621.1:p.Thr517= NP_001371621.1:p.Thr517= NP_001371621.1:p.Thr517= NP_001371621.1:p.Thr517=
band 4.1-like protein 3 isoform 12 NP_001371622.1:p.Thr535= NP_001371622.1:p.Thr535= NP_001371622.1:p.Thr535= NP_001371622.1:p.Thr535=
band 4.1-like protein 3 isoform 13 NP_001371623.1:p.Thr517= NP_001371623.1:p.Thr517= NP_001371623.1:p.Thr517= NP_001371623.1:p.Thr517=
band 4.1-like protein 3 isoform X25 XP_047293334.1:p.Thr535= XP_047293334.1:p.Thr535= XP_047293334.1:p.Thr535= XP_047293334.1:p.Thr535=
band 4.1-like protein 3 isoform 14 NP_001371624.1:p.Thr535= NP_001371624.1:p.Thr535= NP_001371624.1:p.Thr535= NP_001371624.1:p.Thr535=
band 4.1-like protein 3 isoform 15 NP_001371625.1:p.Thr517= NP_001371625.1:p.Thr517= NP_001371625.1:p.Thr517= NP_001371625.1:p.Thr517=
band 4.1-like protein 3 isoform 16 NP_001371626.1:p.Thr535= NP_001371626.1:p.Thr535= NP_001371626.1:p.Thr535= NP_001371626.1:p.Thr535=
band 4.1-like protein 3 isoform X27 XP_047293336.1:p.Thr535= XP_047293336.1:p.Thr535= XP_047293336.1:p.Thr535= XP_047293336.1:p.Thr535=
band 4.1-like protein 3 isoform X28 XP_047293337.1:p.Thr535= XP_047293337.1:p.Thr535= XP_047293337.1:p.Thr535= XP_047293337.1:p.Thr535=
band 4.1-like protein 3 isoform X29 XP_047293338.1:p.Thr517= XP_047293338.1:p.Thr517= XP_047293338.1:p.Thr517= XP_047293338.1:p.Thr517=
band 4.1-like protein 3 isoform X12 XP_047293325.1:p.Thr613= XP_047293325.1:p.Thr613= XP_047293325.1:p.Thr613= XP_047293325.1:p.Thr613=
band 4.1-like protein 3 isoform X13 XP_047293326.1:p.Thr595= XP_047293326.1:p.Thr595= XP_047293326.1:p.Thr595= XP_047293326.1:p.Thr595=
band 4.1-like protein 3 isoform X1 XP_047293314.1:p.Thr722= XP_047293314.1:p.Thr722= XP_047293314.1:p.Thr722= XP_047293314.1:p.Thr722=
band 4.1-like protein 3 isoform X2 XP_047293315.1:p.Thr722= XP_047293315.1:p.Thr722= XP_047293315.1:p.Thr722= XP_047293315.1:p.Thr722=
band 4.1-like protein 3 isoform X3 XP_047293316.1:p.Thr722= XP_047293316.1:p.Thr722= XP_047293316.1:p.Thr722= XP_047293316.1:p.Thr722=
band 4.1-like protein 3 isoform X5 XP_047293318.1:p.Thr722= XP_047293318.1:p.Thr722= XP_047293318.1:p.Thr722= XP_047293318.1:p.Thr722=
band 4.1-like protein 3 isoform X6 XP_047293319.1:p.Thr722= XP_047293319.1:p.Thr722= XP_047293319.1:p.Thr722= XP_047293319.1:p.Thr722=
band 4.1-like protein 3 isoform X8 XP_047293321.1:p.Thr722= XP_047293321.1:p.Thr722= XP_047293321.1:p.Thr722= XP_047293321.1:p.Thr722=
band 4.1-like protein 3 isoform X26 XP_047293335.1:p.Thr426= XP_047293335.1:p.Thr426= XP_047293335.1:p.Thr426= XP_047293335.1:p.Thr426=
band 4.1-like protein 3 isoform X16 XP_047293329.1:p.Thr535= XP_047293329.1:p.Thr535= XP_047293329.1:p.Thr535= XP_047293329.1:p.Thr535=
band 4.1-like protein 3 isoform X14 XP_047293327.1:p.Thr535= XP_047293327.1:p.Thr535= XP_047293327.1:p.Thr535= XP_047293327.1:p.Thr535=
band 4.1-like protein 3 isoform X19 XP_047293330.1:p.Thr517= XP_047293330.1:p.Thr517= XP_047293330.1:p.Thr517= XP_047293330.1:p.Thr517=
band 4.1-like protein 3 isoform X22 XP_047293332.1:p.Thr517= XP_047293332.1:p.Thr517= XP_047293332.1:p.Thr517= XP_047293332.1:p.Thr517=
EPB41L3 transcript variant X8 XM_005258091.1:c.1699-3607= XM_005258091.1:c.1699-3607T>G XM_005258091.1:c.1699-3607T>C XM_005258091.1:c.1699-3607T>A
EPB41L3 transcript variant X23 XM_017025631.2:c.1561-3607= XM_017025631.2:c.1561-3607T>G XM_017025631.2:c.1561-3607T>C XM_017025631.2:c.1561-3607T>A
EPB41L3 transcript variant X20 XM_047437375.1:c.1561-3607= XM_047437375.1:c.1561-3607T>G XM_047437375.1:c.1561-3607T>C XM_047437375.1:c.1561-3607T>A
EPB41L3 transcript variant X24 XM_047437377.1:c.1561-3607= XM_047437377.1:c.1561-3607T>G XM_047437377.1:c.1561-3607T>C XM_047437377.1:c.1561-3607T>A
EPB41L3 transcript variant X30 XM_047437383.1:c.1561-3607= XM_047437383.1:c.1561-3607T>G XM_047437383.1:c.1561-3607T>C XM_047437383.1:c.1561-3607T>A
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

134 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss5003881 Aug 28, 2002 (107)
2 CSHL-HAPMAP ss16776688 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19387123 Feb 27, 2004 (120)
4 SSAHASNP ss21453387 Apr 05, 2004 (121)
5 PERLEGEN ss23575840 Sep 20, 2004 (123)
6 MGC_GENOME_DIFF ss28504352 Sep 24, 2004 (126)
7 ILLUMINA ss65728042 Oct 15, 2006 (127)
8 PERLEGEN ss69205990 May 17, 2007 (127)
9 ILLUMINA ss74871905 Dec 06, 2007 (129)
10 HGSV ss77751653 Dec 06, 2007 (129)
11 HGSV ss84097500 Dec 15, 2007 (130)
12 CORNELL ss86245320 Mar 23, 2008 (129)
13 BCMHGSC_JDW ss90700073 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss96322032 Feb 06, 2009 (130)
15 BGI ss106527915 Feb 06, 2009 (130)
16 1000GENOMES ss110087348 Jan 24, 2009 (130)
17 ILLUMINA-UK ss117773387 Feb 14, 2009 (130)
18 KRIBB_YJKIM ss119465568 Dec 01, 2009 (131)
19 ENSEMBL ss136394098 Dec 01, 2009 (131)
20 ENSEMBL ss137243540 Dec 01, 2009 (131)
21 GMI ss154793647 Dec 01, 2009 (131)
22 SEATTLESEQ ss159736869 Dec 01, 2009 (131)
23 ILLUMINA ss160647179 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167722108 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss171445861 Jul 04, 2010 (132)
26 ILLUMINA ss173653209 Jul 04, 2010 (132)
27 BUSHMAN ss202931509 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss208196203 Jul 04, 2010 (132)
29 BL ss255457729 May 09, 2011 (134)
30 GMI ss282886756 May 04, 2012 (137)
31 GMI ss287236439 Apr 25, 2013 (138)
32 PJP ss292120720 May 09, 2011 (134)
33 1000GENOMES ss465113224 Sep 17, 2011 (135)
34 ILLUMINA ss480850278 May 04, 2012 (137)
35 ILLUMINA ss480867873 May 04, 2012 (137)
36 ILLUMINA ss481803434 Sep 08, 2015 (146)
37 ILLUMINA ss485220068 May 04, 2012 (137)
38 1000GENOMES ss491136267 May 04, 2012 (137)
39 CLINSEQ_SNP ss491747188 May 04, 2012 (137)
40 ILLUMINA ss537200098 Sep 08, 2015 (146)
41 TISHKOFF ss565480063 Apr 25, 2013 (138)
42 SSMP ss661298920 Apr 25, 2013 (138)
43 ILLUMINA ss778898131 Aug 21, 2014 (142)
44 ILLUMINA ss783055982 Sep 08, 2015 (146)
45 ILLUMINA ss784014250 Aug 21, 2014 (142)
46 ILLUMINA ss832313880 Sep 08, 2015 (146)
47 ILLUMINA ss834359349 Aug 21, 2014 (142)
48 JMKIDD_LAB ss974501389 Aug 21, 2014 (142)
49 EVA-GONL ss993449849 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1067577566 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1081297727 Aug 21, 2014 (142)
52 1000GENOMES ss1359972696 Aug 21, 2014 (142)
53 DDI ss1428133486 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1578293457 Apr 01, 2015 (144)
55 EVA_FINRISK ss1584110072 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1636326218 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1679320251 Apr 01, 2015 (144)
58 EVA_EXAC ss1693070794 Apr 01, 2015 (144)
59 EVA_MGP ss1711479430 Apr 01, 2015 (144)
60 EVA_SVP ss1713606164 Apr 01, 2015 (144)
61 ILLUMINA ss1752260526 Sep 08, 2015 (146)
62 HAMMER_LAB ss1808935549 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1936921012 Feb 12, 2016 (147)
64 GENOMED ss1968460776 Jul 19, 2016 (147)
65 JJLAB ss2029232521 Sep 14, 2016 (149)
66 USC_VALOUEV ss2157727756 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2219505019 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2629113809 Nov 08, 2017 (151)
69 ILLUMINA ss2633441328 Nov 08, 2017 (151)
70 GRF ss2702297525 Nov 08, 2017 (151)
71 GNOMAD ss2743171796 Nov 08, 2017 (151)
72 GNOMAD ss2749918752 Nov 08, 2017 (151)
73 GNOMAD ss2953676119 Nov 08, 2017 (151)
74 SWEGEN ss3016093639 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3028442433 Nov 08, 2017 (151)
76 CSHL ss3351898555 Nov 08, 2017 (151)
77 ILLUMINA ss3627750977 Oct 12, 2018 (152)
78 ILLUMINA ss3631419412 Oct 12, 2018 (152)
79 ILLUMINA ss3633152892 Oct 12, 2018 (152)
80 ILLUMINA ss3633861310 Oct 12, 2018 (152)
81 ILLUMINA ss3634694125 Oct 12, 2018 (152)
82 ILLUMINA ss3635548800 Oct 12, 2018 (152)
83 ILLUMINA ss3636382297 Oct 12, 2018 (152)
84 ILLUMINA ss3637300378 Oct 12, 2018 (152)
85 ILLUMINA ss3638181373 Oct 12, 2018 (152)
86 ILLUMINA ss3640401435 Oct 12, 2018 (152)
87 ILLUMINA ss3643158159 Oct 12, 2018 (152)
88 OMUKHERJEE_ADBS ss3646519858 Oct 12, 2018 (152)
89 URBANLAB ss3650731435 Oct 12, 2018 (152)
90 EGCUT_WGS ss3682948661 Jul 13, 2019 (153)
91 EVA_DECODE ss3701141840 Jul 13, 2019 (153)
92 ACPOP ss3742317702 Jul 13, 2019 (153)
93 ILLUMINA ss3744994315 Jul 13, 2019 (153)
94 EVA ss3755070666 Jul 13, 2019 (153)
95 ILLUMINA ss3772491900 Jul 13, 2019 (153)
96 PACBIO ss3788300562 Jul 13, 2019 (153)
97 PACBIO ss3793242193 Jul 13, 2019 (153)
98 PACBIO ss3798128406 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3820335231 Jul 13, 2019 (153)
100 EVA ss3825912372 Apr 27, 2020 (154)
101 EVA ss3835038749 Apr 27, 2020 (154)
102 EVA ss3841133585 Apr 27, 2020 (154)
103 EVA ss3846633046 Apr 27, 2020 (154)
104 SGDP_PRJ ss3886463627 Apr 27, 2020 (154)
105 KRGDB ss3936268922 Apr 27, 2020 (154)
106 KOGIC ss3979529070 Apr 27, 2020 (154)
107 FSA-LAB ss3984128990 Apr 27, 2021 (155)
108 EVA ss3986076829 Apr 27, 2021 (155)
109 EVA ss3986751734 Apr 27, 2021 (155)
110 EVA ss4017784281 Apr 27, 2021 (155)
111 TOPMED ss5047385714 Apr 27, 2021 (155)
112 TOMMO_GENOMICS ss5223992773 Apr 27, 2021 (155)
113 EVA ss5236949084 Apr 27, 2021 (155)
114 EVA ss5237242113 Apr 27, 2021 (155)
115 1000G_HIGH_COVERAGE ss5304332071 Oct 16, 2022 (156)
116 EVA ss5315913492 Oct 16, 2022 (156)
117 EVA ss5429730239 Oct 16, 2022 (156)
118 HUGCELL_USP ss5497251465 Oct 16, 2022 (156)
119 1000G_HIGH_COVERAGE ss5608601077 Oct 16, 2022 (156)
120 EVA ss5623973621 Oct 16, 2022 (156)
121 EVA ss5624078565 Oct 16, 2022 (156)
122 SANFORD_IMAGENETICS ss5660767255 Oct 16, 2022 (156)
123 TOMMO_GENOMICS ss5780712396 Oct 16, 2022 (156)
124 EVA ss5799985401 Oct 16, 2022 (156)
125 EVA ss5800213598 Oct 16, 2022 (156)
126 YY_MCH ss5816832579 Oct 16, 2022 (156)
127 EVA ss5827185904 Oct 16, 2022 (156)
128 EVA ss5848464396 Oct 16, 2022 (156)
129 EVA ss5851947822 Oct 16, 2022 (156)
130 EVA ss5873039895 Oct 16, 2022 (156)
131 EVA ss5936569832 Oct 16, 2022 (156)
132 EVA ss5952166529 Oct 16, 2022 (156)
133 EVA ss5980993421 Oct 16, 2022 (156)
134 EVA ss5981305113 Oct 16, 2022 (156)
135 1000Genomes NC_000018.9 - 5410574 Oct 12, 2018 (152)
136 1000Genomes_30x NC_000018.10 - 5410575 Oct 16, 2022 (156)
137 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 5410574 Oct 12, 2018 (152)
138 Genetic variation in the Estonian population NC_000018.9 - 5410574 Oct 12, 2018 (152)
139 ExAC NC_000018.9 - 5410574 Oct 12, 2018 (152)
140 FINRISK NC_000018.9 - 5410574 Apr 27, 2020 (154)
141 The Danish reference pan genome NC_000018.9 - 5410574 Apr 27, 2020 (154)
142 gnomAD - Genomes NC_000018.10 - 5410575 Apr 27, 2021 (155)
143 gnomAD - Exomes NC_000018.9 - 5410574 Jul 13, 2019 (153)
144 Genome of the Netherlands Release 5 NC_000018.9 - 5410574 Apr 27, 2020 (154)
145 HapMap NC_000018.10 - 5410575 Apr 27, 2020 (154)
146 KOREAN population from KRGDB NC_000018.9 - 5410574 Apr 27, 2020 (154)
147 Korean Genome Project NC_000018.10 - 5410575 Apr 27, 2020 (154)
148 Medical Genome Project healthy controls from Spanish population NC_000018.9 - 5410574 Apr 27, 2020 (154)
149 Northern Sweden NC_000018.9 - 5410574 Jul 13, 2019 (153)
150 Qatari NC_000018.9 - 5410574 Apr 27, 2020 (154)
151 SGDP_PRJ NC_000018.9 - 5410574 Apr 27, 2020 (154)
152 Siberian NC_000018.9 - 5410574 Apr 27, 2020 (154)
153 8.3KJPN NC_000018.9 - 5410574 Apr 27, 2021 (155)
154 14KJPN NC_000018.10 - 5410575 Oct 16, 2022 (156)
155 TopMed NC_000018.10 - 5410575 Apr 27, 2021 (155)
156 UK 10K study - Twins NC_000018.9 - 5410574 Oct 12, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000018.9 - 5410574 Jul 13, 2019 (153)
158 ALFA NC_000018.10 - 5410575 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17850050 Mar 11, 2006 (126)
rs60546104 May 26, 2008 (130)
rs118006253 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
43446316, ss3936268922 NC_000018.9:5410573:A:C NC_000018.10:5410574:A:C (self)
ss77751653, ss84097500, ss90700073, ss110087348, ss117773387, ss160647179, ss167722108, ss171445861, ss202931509, ss208196203, ss255457729, ss282886756, ss287236439, ss292120720, ss480850278, ss491747188, ss1713606164, ss3643158159 NC_000018.8:5400573:A:G NC_000018.10:5410574:A:G (self)
73264974, 40595836, 28686909, 3536089, 106533, 4490094, 12481211, 18084916, 43446316, 595190, 15602567, 18962934, 38480607, 10244110, 81962080, 40595836, 8973174, ss465113224, ss480867873, ss481803434, ss485220068, ss491136267, ss537200098, ss565480063, ss661298920, ss778898131, ss783055982, ss784014250, ss832313880, ss834359349, ss974501389, ss993449849, ss1067577566, ss1081297727, ss1359972696, ss1428133486, ss1578293457, ss1584110072, ss1636326218, ss1679320251, ss1693070794, ss1711479430, ss1752260526, ss1808935549, ss1936921012, ss1968460776, ss2029232521, ss2157727756, ss2629113809, ss2633441328, ss2702297525, ss2743171796, ss2749918752, ss2953676119, ss3016093639, ss3351898555, ss3627750977, ss3631419412, ss3633152892, ss3633861310, ss3634694125, ss3635548800, ss3636382297, ss3637300378, ss3638181373, ss3640401435, ss3646519858, ss3682948661, ss3742317702, ss3744994315, ss3755070666, ss3772491900, ss3788300562, ss3793242193, ss3798128406, ss3825912372, ss3835038749, ss3841133585, ss3886463627, ss3936268922, ss3984128990, ss3986076829, ss3986751734, ss4017784281, ss5223992773, ss5315913492, ss5429730239, ss5623973621, ss5624078565, ss5660767255, ss5799985401, ss5800213598, ss5827185904, ss5848464396, ss5936569832, ss5952166529, ss5980993421, ss5981305113 NC_000018.9:5410573:A:G NC_000018.10:5410574:A:G (self)
96127012, 516917223, 1545597, 35907071, 114549500, 262931377, 5210755163, ss2219505019, ss3028442433, ss3650731435, ss3701141840, ss3820335231, ss3846633046, ss3979529070, ss5047385714, ss5236949084, ss5237242113, ss5304332071, ss5497251465, ss5608601077, ss5780712396, ss5816832579, ss5851947822, ss5873039895 NC_000018.10:5410574:A:G NC_000018.10:5410574:A:G (self)
ss16776688, ss19387123, ss21453387 NT_010859.13:5400573:A:G NC_000018.10:5410574:A:G (self)
ss5003881, ss23575840, ss28504352, ss65728042, ss69205990, ss74871905, ss86245320, ss96322032, ss106527915, ss119465568, ss136394098, ss137243540, ss154793647, ss159736869, ss173653209 NT_010859.14:5400573:A:G NC_000018.10:5410574:A:G (self)
43446316, ss3936268922 NC_000018.9:5410573:A:T NC_000018.10:5410574:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs3817466
PMID Title Author Year Journal
34579655 The rs9953490 polymorphism of DAL-1 gene is associated with gastric cancer risk in the Han population in Northeast China. Wang H et al. 2021 BMC gastroenterology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07