dbSNP Short Genetic Variations
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.
rs757631686
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr18:5478261 (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
- C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000019 (5/264690, TOPMED)G=0.000016 (4/251374, GnomAD_exome)G=0.000014 (2/140278, GnomAD) (+ 4 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- EPB41L3 : Missense Variant
- Publications
- 0 citations
- 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 | 35430 | C=0.99992 | G=0.00008 |
| European | Sub | 26586 | C=0.99989 | G=0.00011 |
| African | Sub | 2918 | C=1.0000 | G=0.0000 |
| African Others | Sub | 114 | C=1.000 | G=0.000 |
| African American | Sub | 2804 | C=1.0000 | G=0.0000 |
| Asian | Sub | 112 | C=1.000 | G=0.000 |
| East Asian | Sub | 86 | C=1.00 | G=0.00 |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 |
| Latin American 1 | Sub | 500 | C=1.000 | G=0.000 |
| Latin American 2 | Sub | 628 | C=1.000 | G=0.000 |
| South Asian | Sub | 98 | C=1.00 | G=0.00 |
| Other | Sub | 4588 | C=1.0000 | G=0.0000 |
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 | C=0.999981 | G=0.000019 |
| gnomAD - Exomes | Global | Study-wide | 251374 | C=0.999984 | G=0.000016 |
| gnomAD - Exomes | European | Sub | 135322 | C=0.999970 | G=0.000030 |
| gnomAD - Exomes | Asian | Sub | 49004 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | American | Sub | 34586 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 16252 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140278 | C=0.999986 | G=0.000014 |
| gnomAD - Genomes | European | Sub | 75956 | C=0.99997 | G=0.00003 |
| gnomAD - Genomes | African | Sub | 42052 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | American | Sub | 13660 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | C=1.0000 | G=0.0000 |
| ExAC | Global | Study-wide | 121348 | C=0.999992 | G=0.000008 |
| ExAC | Europe | Sub | 73314 | C=0.99999 | G=0.00001 |
| ExAC | Asian | Sub | 25158 | C=1.00000 | G=0.00000 |
| ExAC | American | Sub | 11566 | C=1.00000 | G=0.00000 |
| ExAC | African | Sub | 10404 | C=1.00000 | G=0.00000 |
| ExAC | Other | Sub | 906 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Total | Global | 35430 | C=0.99992 | G=0.00008 |
| Allele Frequency Aggregator | European | Sub | 26586 | C=0.99989 | G=0.00011 |
| Allele Frequency Aggregator | Other | Sub | 4588 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2918 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | G=0.00 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9997 | G=0.0003 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=1.0000 | G=0.0000 |
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.5478261C>G |
| GRCh37.p13 chr 18 | NC_000018.9:g.5478260C>G |
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.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 4 | NP_001268464.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 25 | NM_001384701.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 20 | NP_001371630.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 26 | NM_001384702.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 21 | NP_001371631.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 1 | NM_012307.5:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 1 | NP_036439.2:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 7 | NM_001384683.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 4 | NP_001371612.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 18 | NM_001384694.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 13 | NP_001371623.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 11 | NM_001384687.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 8 | NP_001371616.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 10 | NM_001384686.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 7 | NP_001371615.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 14 | NM_001384690.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 9 | NP_001371619.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 5 | NM_001330557.2:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 5 | NP_001317486.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 13 | NM_001384689.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 9 | NP_001371618.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 24 | NM_001384700.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 19 | NP_001371629.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 3 | NM_001281534.3:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 3 | NP_001268463.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 12 | NM_001384688.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 8 | NP_001371617.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 19 | NM_001384695.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 14 | NP_001371624.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 29 | NM_001384705.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 24 | NP_001371634.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 22 | NM_001384698.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 17 | NP_001371627.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 17 | NM_001384693.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 12 | NP_001371622.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 8 | NM_001384684.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 5 | NP_001371613.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 30 | NM_001384706.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 25 | NP_001371635.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 23 | NM_001384699.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 18 | NP_001371628.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 21 | NM_001384697.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 16 | NP_001371626.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 27 | NM_001384703.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 22 | NP_001371632.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 6 | NM_001384682.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 2 | NP_001371611.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 2 | NM_001281533.2:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 2 | NP_001268462.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 20 | NM_001384696.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 15 | NP_001371625.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 15 | NM_001384691.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 10 | NP_001371620.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 9 | NM_001384685.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 6 | NP_001371614.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 16 | NM_001384692.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 11 | NP_001371621.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant 28 | NM_001384704.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform 23 | NP_001371633.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X17 | XM_017025619.2:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X17 | XP_016881108.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X21 | XM_017025626.2:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X21 | XP_016881115.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X23 | XM_017025631.2:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X23 | XP_016881120.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X1 | XM_047437358.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X1 | XP_047293314.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X2 | XM_047437359.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X2 | XP_047293315.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X3 | XM_047437360.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X3 | XP_047293316.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X4 | XM_047437361.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X4 | XP_047293317.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X5 | XM_047437362.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X5 | XP_047293318.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X6 | XM_047437363.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X6 | XP_047293319.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X7 | XM_047437364.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X7 | XP_047293320.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X8 | XM_047437365.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X8 | XP_047293321.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X9 | XM_047437366.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X9 | XP_047293322.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X10 | XM_047437367.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X10 | XP_047293323.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X11 | XM_047437368.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X11 | XP_047293324.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X12 | XM_047437369.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X12 | XP_047293325.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X13 | XM_047437370.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X13 | XP_047293326.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X14 | XM_047437371.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X14 | XP_047293327.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X15 | XM_047437372.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X15 | XP_047293328.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X16 | XM_047437373.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X16 | XP_047293329.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X18 | XM_017025620.3:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X18 | XP_016881109.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X19 | XM_047437374.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X19 | XP_047293330.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X20 | XM_047437375.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X20 | XP_047293331.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X22 | XM_047437376.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X22 | XP_047293332.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X24 | XM_047437377.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X24 | XP_047293333.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X25 | XM_047437378.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X25 | XP_047293334.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X26 | XM_047437379.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X26 | XP_047293335.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X27 | XM_047437380.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X27 | XP_047293336.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X28 | XM_047437381.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X28 | XP_047293337.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X29 | XM_047437382.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X29 | XP_047293338.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X30 | XM_047437383.1:c.361G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X30 | XP_047293339.1:p.Glu121Gln | E (Glu) > Q (Gln) | Missense Variant |
| EPB41L3 transcript variant X31 | XM_047437384.1:c.34G>C | E [GAA] > Q [CAA] | Coding Sequence Variant |
| band 4.1-like protein 3 isoform X31 | XP_047293340.1:p.Glu12Gln | E (Glu) > Q (Gln) | Missense 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 | C= | G |
|---|---|---|
| GRCh38.p14 chr 18 | NC_000018.10:g.5478261= | NC_000018.10:g.5478261C>G |
| GRCh37.p13 chr 18 | NC_000018.9:g.5478260= | NC_000018.9:g.5478260C>G |
| EPB41L3 transcript variant 1 | NM_012307.5:c.361= | NM_012307.5:c.361G>C |
| EPB41L3 transcript variant 1 | NM_012307.4:c.361= | NM_012307.4:c.361G>C |
| EPB41L3 transcript variant 1 | NM_012307.3:c.361= | NM_012307.3:c.361G>C |
| EPB41L3 transcript variant 3 | NM_001281534.3:c.361= | NM_001281534.3:c.361G>C |
| EPB41L3 transcript variant 3 | NM_001281534.2:c.361= | NM_001281534.2:c.361G>C |
| EPB41L3 transcript variant 3 | NM_001281534.1:c.361= | NM_001281534.1:c.361G>C |
| EPB41L3 transcript variant X18 | XM_017025620.3:c.361= | XM_017025620.3:c.361G>C |
| EPB41L3 transcript variant X6 | XM_017025620.2:c.361= | XM_017025620.2:c.361G>C |
| EPB41L3 transcript variant X6 | XM_017025620.1:c.361= | XM_017025620.1:c.361G>C |
| EPB41L3 transcript variant 5 | NM_001330557.2:c.361= | NM_001330557.2:c.361G>C |
| EPB41L3 transcript variant 5 | NM_001330557.1:c.361= | NM_001330557.1:c.361G>C |
| EPB41L3 transcript variant 4 | NM_001281535.2:c.34= | NM_001281535.2:c.34G>C |
| EPB41L3 transcript variant 4 | NM_001281535.1:c.34= | NM_001281535.1:c.34G>C |
| EPB41L3 transcript variant 2 | NM_001281533.2:c.361= | NM_001281533.2:c.361G>C |
| EPB41L3 transcript variant 2 | NM_001281533.1:c.361= | NM_001281533.1:c.361G>C |
| EPB41L3 transcript variant X17 | XM_017025619.2:c.361= | XM_017025619.2:c.361G>C |
| EPB41L3 transcript variant X5 | XM_017025619.1:c.361= | XM_017025619.1:c.361G>C |
| EPB41L3 transcript variant X21 | XM_017025626.2:c.361= | XM_017025626.2:c.361G>C |
| EPB41L3 transcript variant X14 | XM_017025626.1:c.361= | XM_017025626.1:c.361G>C |
| EPB41L3 transcript variant X23 | XM_017025631.2:c.361= | XM_017025631.2:c.361G>C |
| EPB41L3 transcript variant X19 | XM_017025631.1:c.361= | XM_017025631.1:c.361G>C |
| EPB41L3 transcript variant X15 | XM_047437372.1:c.34= | XM_047437372.1:c.34G>C |
| EPB41L3 transcript variant 9 | NM_001384685.1:c.361= | NM_001384685.1:c.361G>C |
| EPB41L3 transcript variant X4 | XM_047437361.1:c.361= | XM_047437361.1:c.361G>C |
| EPB41L3 transcript variant X7 | XM_047437364.1:c.361= | XM_047437364.1:c.361G>C |
| EPB41L3 transcript variant X9 | XM_047437366.1:c.361= | XM_047437366.1:c.361G>C |
| EPB41L3 transcript variant X10 | XM_047437367.1:c.361= | XM_047437367.1:c.361G>C |
| EPB41L3 transcript variant X11 | XM_047437368.1:c.361= | XM_047437368.1:c.361G>C |
| EPB41L3 transcript variant 22 | NM_001384698.1:c.34= | NM_001384698.1:c.34G>C |
| EPB41L3 transcript variant 23 | NM_001384699.1:c.34= | NM_001384699.1:c.34G>C |
| EPB41L3 transcript variant 24 | NM_001384700.1:c.34= | NM_001384700.1:c.34G>C |
| EPB41L3 transcript variant 25 | NM_001384701.1:c.34= | NM_001384701.1:c.34G>C |
| EPB41L3 transcript variant 26 | NM_001384702.1:c.34= | NM_001384702.1:c.34G>C |
| EPB41L3 transcript variant 27 | NM_001384703.1:c.34= | NM_001384703.1:c.34G>C |
| EPB41L3 transcript variant 28 | NM_001384704.1:c.34= | NM_001384704.1:c.34G>C |
| EPB41L3 transcript variant 8 | NM_001384684.1:c.361= | NM_001384684.1:c.361G>C |
| EPB41L3 transcript variant 29 | NM_001384705.1:c.34= | NM_001384705.1:c.34G>C |
| EPB41L3 transcript variant 7 | NM_001384683.1:c.34= | NM_001384683.1:c.34G>C |
| EPB41L3 transcript variant 30 | NM_001384706.1:c.34= | NM_001384706.1:c.34G>C |
| EPB41L3 transcript variant 12 | NM_001384688.1:c.361= | NM_001384688.1:c.361G>C |
| EPB41L3 transcript variant 10 | NM_001384686.1:c.361= | NM_001384686.1:c.361G>C |
| EPB41L3 transcript variant 14 | NM_001384690.1:c.361= | NM_001384690.1:c.361G>C |
| EPB41L3 transcript variant 11 | NM_001384687.1:c.361= | NM_001384687.1:c.361G>C |
| EPB41L3 transcript variant 13 | NM_001384689.1:c.361= | NM_001384689.1:c.361G>C |
| EPB41L3 transcript variant X31 | XM_047437384.1:c.34= | XM_047437384.1:c.34G>C |
| EPB41L3 transcript variant 6 | NM_001384682.1:c.361= | NM_001384682.1:c.361G>C |
| EPB41L3 transcript variant 15 | NM_001384691.1:c.361= | NM_001384691.1:c.361G>C |
| EPB41L3 transcript variant 16 | NM_001384692.1:c.361= | NM_001384692.1:c.361G>C |
| EPB41L3 transcript variant 17 | NM_001384693.1:c.361= | NM_001384693.1:c.361G>C |
| EPB41L3 transcript variant 18 | NM_001384694.1:c.361= | NM_001384694.1:c.361G>C |
| EPB41L3 transcript variant X25 | XM_047437378.1:c.361= | XM_047437378.1:c.361G>C |
| EPB41L3 transcript variant 19 | NM_001384695.1:c.361= | NM_001384695.1:c.361G>C |
| EPB41L3 transcript variant 20 | NM_001384696.1:c.361= | NM_001384696.1:c.361G>C |
| EPB41L3 transcript variant 21 | NM_001384697.1:c.361= | NM_001384697.1:c.361G>C |
| EPB41L3 transcript variant X27 | XM_047437380.1:c.361= | XM_047437380.1:c.361G>C |
| EPB41L3 transcript variant X28 | XM_047437381.1:c.361= | XM_047437381.1:c.361G>C |
| EPB41L3 transcript variant X30 | XM_047437383.1:c.361= | XM_047437383.1:c.361G>C |
| EPB41L3 transcript variant X29 | XM_047437382.1:c.361= | XM_047437382.1:c.361G>C |
| EPB41L3 transcript variant X12 | XM_047437369.1:c.34= | XM_047437369.1:c.34G>C |
| EPB41L3 transcript variant X13 | XM_047437370.1:c.34= | XM_047437370.1:c.34G>C |
| EPB41L3 transcript variant X1 | XM_047437358.1:c.361= | XM_047437358.1:c.361G>C |
| EPB41L3 transcript variant X2 | XM_047437359.1:c.361= | XM_047437359.1:c.361G>C |
| EPB41L3 transcript variant X3 | XM_047437360.1:c.361= | XM_047437360.1:c.361G>C |
| EPB41L3 transcript variant X5 | XM_047437362.1:c.361= | XM_047437362.1:c.361G>C |
| EPB41L3 transcript variant X6 | XM_047437363.1:c.361= | XM_047437363.1:c.361G>C |
| EPB41L3 transcript variant X8 | XM_047437365.1:c.361= | XM_047437365.1:c.361G>C |
| EPB41L3 transcript variant X26 | XM_047437379.1:c.34= | XM_047437379.1:c.34G>C |
| EPB41L3 transcript variant X16 | XM_047437373.1:c.361= | XM_047437373.1:c.361G>C |
| EPB41L3 transcript variant X14 | XM_047437371.1:c.361= | XM_047437371.1:c.361G>C |
| EPB41L3 transcript variant X20 | XM_047437375.1:c.361= | XM_047437375.1:c.361G>C |
| EPB41L3 transcript variant X19 | XM_047437374.1:c.361= | XM_047437374.1:c.361G>C |
| EPB41L3 transcript variant X22 | XM_047437376.1:c.361= | XM_047437376.1:c.361G>C |
| EPB41L3 transcript variant X24 | XM_047437377.1:c.361= | XM_047437377.1:c.361G>C |
| band 4.1-like protein 3 isoform 1 | NP_036439.2:p.Glu121= | NP_036439.2:p.Glu121Gln |
| band 4.1-like protein 3 isoform 3 | NP_001268463.1:p.Glu121= | NP_001268463.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X18 | XP_016881109.1:p.Glu121= | XP_016881109.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 5 | NP_001317486.1:p.Glu121= | NP_001317486.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 4 | NP_001268464.1:p.Glu12= | NP_001268464.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 2 | NP_001268462.1:p.Glu121= | NP_001268462.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X17 | XP_016881108.1:p.Glu121= | XP_016881108.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X21 | XP_016881115.1:p.Glu121= | XP_016881115.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X23 | XP_016881120.1:p.Glu121= | XP_016881120.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X15 | XP_047293328.1:p.Glu12= | XP_047293328.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 6 | NP_001371614.1:p.Glu121= | NP_001371614.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X4 | XP_047293317.1:p.Glu121= | XP_047293317.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X7 | XP_047293320.1:p.Glu121= | XP_047293320.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X9 | XP_047293322.1:p.Glu121= | XP_047293322.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X10 | XP_047293323.1:p.Glu121= | XP_047293323.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X11 | XP_047293324.1:p.Glu121= | XP_047293324.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 17 | NP_001371627.1:p.Glu12= | NP_001371627.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 18 | NP_001371628.1:p.Glu12= | NP_001371628.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 19 | NP_001371629.1:p.Glu12= | NP_001371629.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 20 | NP_001371630.1:p.Glu12= | NP_001371630.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 21 | NP_001371631.1:p.Glu12= | NP_001371631.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 22 | NP_001371632.1:p.Glu12= | NP_001371632.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 23 | NP_001371633.1:p.Glu12= | NP_001371633.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 5 | NP_001371613.1:p.Glu121= | NP_001371613.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 24 | NP_001371634.1:p.Glu12= | NP_001371634.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 4 | NP_001371612.1:p.Glu12= | NP_001371612.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 25 | NP_001371635.1:p.Glu12= | NP_001371635.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 8 | NP_001371617.1:p.Glu121= | NP_001371617.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 7 | NP_001371615.1:p.Glu121= | NP_001371615.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 9 | NP_001371619.1:p.Glu121= | NP_001371619.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 8 | NP_001371616.1:p.Glu121= | NP_001371616.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 9 | NP_001371618.1:p.Glu121= | NP_001371618.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X31 | XP_047293340.1:p.Glu12= | XP_047293340.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform 2 | NP_001371611.1:p.Glu121= | NP_001371611.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 10 | NP_001371620.1:p.Glu121= | NP_001371620.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 11 | NP_001371621.1:p.Glu121= | NP_001371621.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 12 | NP_001371622.1:p.Glu121= | NP_001371622.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 13 | NP_001371623.1:p.Glu121= | NP_001371623.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X25 | XP_047293334.1:p.Glu121= | XP_047293334.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 14 | NP_001371624.1:p.Glu121= | NP_001371624.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 15 | NP_001371625.1:p.Glu121= | NP_001371625.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform 16 | NP_001371626.1:p.Glu121= | NP_001371626.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X27 | XP_047293336.1:p.Glu121= | XP_047293336.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X28 | XP_047293337.1:p.Glu121= | XP_047293337.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X30 | XP_047293339.1:p.Glu121= | XP_047293339.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X29 | XP_047293338.1:p.Glu121= | XP_047293338.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X12 | XP_047293325.1:p.Glu12= | XP_047293325.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform X13 | XP_047293326.1:p.Glu12= | XP_047293326.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform X1 | XP_047293314.1:p.Glu121= | XP_047293314.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X2 | XP_047293315.1:p.Glu121= | XP_047293315.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X3 | XP_047293316.1:p.Glu121= | XP_047293316.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X5 | XP_047293318.1:p.Glu121= | XP_047293318.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X6 | XP_047293319.1:p.Glu121= | XP_047293319.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X8 | XP_047293321.1:p.Glu121= | XP_047293321.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X26 | XP_047293335.1:p.Glu12= | XP_047293335.1:p.Glu12Gln |
| band 4.1-like protein 3 isoform X16 | XP_047293329.1:p.Glu121= | XP_047293329.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X14 | XP_047293327.1:p.Glu121= | XP_047293327.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X20 | XP_047293331.1:p.Glu121= | XP_047293331.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X19 | XP_047293330.1:p.Glu121= | XP_047293330.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X22 | XP_047293332.1:p.Glu121= | XP_047293332.1:p.Glu121Gln |
| band 4.1-like protein 3 isoform X24 | XP_047293333.1:p.Glu121= | XP_047293333.1:p.Glu121Gln |
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#.
7 SubSNP,
7 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_UK10K_ALSPAC | ss1636327292 | Apr 01, 2015 (144) |
| 2 | EVA_UK10K_TWINSUK | ss1679321325 | Apr 01, 2015 (144) |
| 3 | EVA_EXAC | ss1693071276 | Apr 01, 2015 (144) |
| 4 | GNOMAD | ss2743172487 | Nov 08, 2017 (151) |
| 5 | GNOMAD | ss2749918960 | Nov 08, 2017 (151) |
| 6 | GNOMAD | ss2953681416 | Nov 08, 2017 (151) |
| 7 | TOPMED | ss5047402983 | Apr 26, 2021 (155) |
| 8 | The Avon Longitudinal Study of Parents and Children | NC_000018.9 - 5478260 | Oct 12, 2018 (152) |
| 9 | ExAC | NC_000018.9 - 5478260 | Oct 12, 2018 (152) |
| 10 | gnomAD - Genomes | NC_000018.10 - 5478261 | Apr 26, 2021 (155) |
| 11 | gnomAD - Exomes | NC_000018.9 - 5478260 | Jul 13, 2019 (153) |
| 12 | TopMed | NC_000018.10 - 5478261 | Apr 26, 2021 (155) |
| 13 | UK 10K study - Twins | NC_000018.9 - 5478260 | Oct 12, 2018 (152) |
| 14 | ALFA | NC_000018.10 - 5478261 | Apr 26, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 40597015, 3536601, 12481965, 40597015, ss1636327292, ss1679321325, ss1693071276, ss2743172487, ss2749918960, ss2953681416 | NC_000018.9:5478259:C:G | NC_000018.10:5478260:C:G | (self) |
| 516930846, 262948646, 6985711446, ss5047402983 | NC_000018.10:5478260:C:G | NC_000018.10:5478260:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs757631686
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
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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.
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.