Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs8140

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:1619340 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.463025 (122558/264690, TOPMED)
C=0.34715 (6709/19326, ALFA)
C=0.49017 (6284/12820, GO-ESP) (+ 11 more)
T=0.3738 (2394/6404, 1000G_30x)
T=0.3762 (1884/5008, 1000G)
C=0.4525 (2027/4480, Estonian)
C=0.3996 (1540/3854, ALSPAC)
C=0.3811 (1413/3708, TWINSUK)
T=0.1275 (373/2926, KOREAN)
T=0.1261 (224/1776, Korea1K)
C=0.437 (262/600, NorthernSweden)
T=0.239 (111/464, SGDP_PRJ)
C=0.375 (81/216, Qatari)
T=0.25 (9/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TCF3 : Synonymous 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 19326 T=0.65285 A=0.00000, C=0.34715, G=0.00000
European Sub 15508 T=0.66385 A=0.00000, C=0.33615, G=0.00000
African Sub 946 T=0.566 A=0.000, C=0.434, G=0.000
African Others Sub 16 T=0.25 A=0.00, C=0.75, G=0.00
African American Sub 930 T=0.571 A=0.000, C=0.429, G=0.000
Asian Sub 68 T=0.26 A=0.00, C=0.74, G=0.00
East Asian Sub 30 T=0.20 A=0.00, C=0.80, G=0.00
Other Asian Sub 38 T=0.32 A=0.00, C=0.68, G=0.00
Latin American 1 Sub 52 T=1.00 A=0.00, C=0.00, G=0.00
Latin American 2 Sub 126 T=1.000 A=0.000, C=0.000, G=0.000
South Asian Sub 36 T=0.92 A=0.00, C=0.08, G=0.00
Other Sub 2590 T=0.6015 A=0.0000, C=0.3985, G=0.0000


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 T=0.463025 C=0.536975
Allele Frequency Aggregator Total Global 19326 T=0.65285 A=0.00000, C=0.34715, G=0.00000
Allele Frequency Aggregator European Sub 15508 T=0.66385 A=0.00000, C=0.33615, G=0.00000
Allele Frequency Aggregator Other Sub 2590 T=0.6015 A=0.0000, C=0.3985, G=0.0000
Allele Frequency Aggregator African Sub 946 T=0.566 A=0.000, C=0.434, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 126 T=1.000 A=0.000, C=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 68 T=0.26 A=0.00, C=0.74, G=0.00
Allele Frequency Aggregator Latin American 1 Sub 52 T=1.00 A=0.00, C=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 36 T=0.92 A=0.00, C=0.08, G=0.00
GO Exome Sequencing Project Global Study-wide 12820 T=0.50983 C=0.49017
GO Exome Sequencing Project European American Sub 8458 T=0.6136 C=0.3864
GO Exome Sequencing Project African American Sub 4362 T=0.3086 C=0.6914
1000Genomes_30x Global Study-wide 6404 T=0.3738 C=0.6262
1000Genomes_30x African Sub 1786 T=0.2240 C=0.7760
1000Genomes_30x Europe Sub 1266 T=0.6264 C=0.3736
1000Genomes_30x South Asian Sub 1202 T=0.4983 C=0.5017
1000Genomes_30x East Asian Sub 1170 T=0.1085 C=0.8915
1000Genomes_30x American Sub 980 T=0.485 C=0.515
1000Genomes Global Study-wide 5008 T=0.3762 C=0.6238
1000Genomes African Sub 1322 T=0.2277 C=0.7723
1000Genomes East Asian Sub 1008 T=0.1161 C=0.8839
1000Genomes Europe Sub 1006 T=0.6342 C=0.3658
1000Genomes South Asian Sub 978 T=0.505 C=0.495
1000Genomes American Sub 694 T=0.481 C=0.519
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5475 C=0.4525
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6004 C=0.3996
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6189 C=0.3811
KOREAN population from KRGDB KOREAN Study-wide 2926 T=0.1275 C=0.8718, G=0.0007
Korean Genome Project KOREAN Study-wide 1776 T=0.1261 C=0.8739
Northern Sweden ACPOP Study-wide 600 T=0.563 C=0.437
SGDP_PRJ Global Study-wide 464 T=0.239 C=0.761
Qatari Global Study-wide 216 T=0.625 C=0.375
Siberian Global Study-wide 36 T=0.25 C=0.75
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 19 NC_000019.10:g.1619340T>A
GRCh38.p14 chr 19 NC_000019.10:g.1619340T>C
GRCh38.p14 chr 19 NC_000019.10:g.1619340T>G
GRCh37.p13 chr 19 NC_000019.9:g.1619339T>A
GRCh37.p13 chr 19 NC_000019.9:g.1619339T>C
GRCh37.p13 chr 19 NC_000019.9:g.1619339T>G
TCF3 RefSeqGene (LRG_1325) NG_029953.2:g.38207A>T
TCF3 RefSeqGene (LRG_1325) NG_029953.2:g.38207A>G
TCF3 RefSeqGene (LRG_1325) NG_029953.2:g.38207A>C
Gene: TCF3, transcription factor 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TCF3 transcript variant 2 NM_001136139.4:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001129611.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 2 NM_001136139.4:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001129611.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 2 NM_001136139.4:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001129611.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 1 NM_003200.5:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform E12 NP_003191.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 1 NM_003200.5:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform E12 NP_003191.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 1 NM_003200.5:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform E12 NP_003191.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 3 NM_001351778.2:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform 3 NP_001338707.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 3 NM_001351778.2:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform 3 NP_001338707.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 3 NM_001351778.2:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform 3 NP_001338707.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 4 NM_001351779.2:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001338708.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 4 NM_001351779.2:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001338708.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant 4 NM_001351779.2:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform E47 NP_001338708.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X1 XM_047439258.1:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295214.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X1 XM_047439258.1:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295214.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X1 XM_047439258.1:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295214.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X2 XM_047439259.1:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295215.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X2 XM_047439259.1:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295215.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X2 XM_047439259.1:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295215.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X3 XM_047439260.1:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295216.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X3 XM_047439260.1:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295216.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X3 XM_047439260.1:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X1 XP_047295216.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X4 XM_047439261.1:c.1386A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X2 XP_047295217.1:p.Ser462= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X4 XM_047439261.1:c.1386A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X2 XP_047295217.1:p.Ser462= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X4 XM_047439261.1:c.1386A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X2 XP_047295217.1:p.Ser462= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X5 XM_006722855.5:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_006722918.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X5 XM_006722855.5:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_006722918.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X5 XM_006722855.5:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_006722918.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X6 XM_017027178.2:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_016882667.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X6 XM_017027178.2:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_016882667.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X6 XM_017027178.2:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_016882667.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X7 XM_047439262.1:c.1389A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_047295218.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X7 XM_047439262.1:c.1389A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_047295218.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X7 XM_047439262.1:c.1389A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X3 XP_047295218.1:p.Ser463= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X8 XM_047439263.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295219.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X8 XM_047439263.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295219.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X8 XM_047439263.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295219.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X9 XM_047439264.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295220.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X9 XM_047439264.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295220.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X9 XM_047439264.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295220.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X10 XM_047439265.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295221.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X10 XM_047439265.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295221.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X10 XM_047439265.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295221.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X11 XM_047439266.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295222.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X11 XM_047439266.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295222.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X11 XM_047439266.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295222.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X12 XM_047439267.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295223.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X12 XM_047439267.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295223.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X12 XM_047439267.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295223.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X13 XM_047439268.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295224.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X13 XM_047439268.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295224.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X13 XM_047439268.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295224.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X14 XM_047439269.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295225.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X14 XM_047439269.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295225.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X14 XM_047439269.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295225.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X15 XM_047439270.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295226.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X15 XM_047439270.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295226.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X15 XM_047439270.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295226.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X16 XM_047439271.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295227.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X16 XM_047439271.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295227.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X16 XM_047439271.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295227.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X17 XM_047439272.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295228.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X17 XM_047439272.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295228.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X17 XM_047439272.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295228.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X18 XM_047439273.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295229.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X18 XM_047439273.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295229.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X18 XM_047439273.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295229.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X19 XM_047439274.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295230.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X19 XM_047439274.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295230.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X19 XM_047439274.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295230.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X20 XM_047439275.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295231.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X20 XM_047439275.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295231.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X20 XM_047439275.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295231.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X21 XM_047439276.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295232.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X21 XM_047439276.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295232.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X21 XM_047439276.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295232.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X22 XM_017027181.2:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_016882670.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X22 XM_017027181.2:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_016882670.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X22 XM_017027181.2:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_016882670.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X23 XM_047439277.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295233.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X23 XM_047439277.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295233.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X23 XM_047439277.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295233.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X24 XM_047439278.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295234.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X24 XM_047439278.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295234.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X24 XM_047439278.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X4 XP_047295234.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X25 XM_047439279.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295235.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X25 XM_047439279.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295235.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X25 XM_047439279.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295235.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X26 XM_047439280.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295236.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X26 XM_047439280.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295236.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X26 XM_047439280.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X5 XP_047295236.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X27 XM_047439281.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295237.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X27 XM_047439281.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295237.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X27 XM_047439281.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295237.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X28 XM_047439282.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295238.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X28 XM_047439282.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295238.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X28 XM_047439282.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295238.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X29 XM_047439283.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295239.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X29 XM_047439283.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295239.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X29 XM_047439283.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295239.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X30 XM_047439284.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295240.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X30 XM_047439284.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295240.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X30 XM_047439284.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X6 XP_047295240.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X31 XM_011528225.3:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_011526527.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X31 XM_011528225.3:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_011526527.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X31 XM_011528225.3:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_011526527.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X32 XM_011528226.3:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_011526528.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X32 XM_011528226.3:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_011526528.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X32 XM_011528226.3:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_011526528.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X33 XM_047439285.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295241.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X33 XM_047439285.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295241.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X33 XM_047439285.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295241.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X34 XM_047439286.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295242.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X34 XM_047439286.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295242.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X34 XM_047439286.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X8 XP_047295242.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X35 XM_047439287.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295243.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X35 XM_047439287.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295243.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X35 XM_047439287.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295243.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X36 XM_047439288.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295244.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X36 XM_047439288.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295244.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X36 XM_047439288.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295244.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X37 XM_047439289.1:c.1302A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295245.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X37 XM_047439289.1:c.1302A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295245.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X37 XM_047439289.1:c.1302A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X7 XP_047295245.1:p.Ser434= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X38 XM_047439290.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295246.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X38 XM_047439290.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295246.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X38 XM_047439290.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295246.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X39 XM_047439291.1:c.1299A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295247.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X39 XM_047439291.1:c.1299A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295247.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X39 XM_047439291.1:c.1299A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X9 XP_047295247.1:p.Ser433= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X40 XM_047439292.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295248.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X40 XM_047439292.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295248.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X40 XM_047439292.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295248.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X41 XM_047439293.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295249.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X41 XM_047439293.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295249.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X41 XM_047439293.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295249.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X42 XM_047439294.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295250.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X42 XM_047439294.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295250.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X42 XM_047439294.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295250.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X43 XM_047439295.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295251.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X43 XM_047439295.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295251.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X43 XM_047439295.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295251.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X44 XM_047439296.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295252.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X44 XM_047439296.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295252.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X44 XM_047439296.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X11 XP_047295252.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X45 XM_047439297.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295253.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X45 XM_047439297.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295253.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X45 XM_047439297.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X10 XP_047295253.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X46 XM_047439298.1:c.1149A>T S [TCA] > S [TCT] Coding Sequence Variant
transcription factor E2-alpha isoform X12 XP_047295254.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X46 XM_047439298.1:c.1149A>G S [TCA] > S [TCG] Coding Sequence Variant
transcription factor E2-alpha isoform X12 XP_047295254.1:p.Ser383= S (Ser) > S (Ser) Synonymous Variant
TCF3 transcript variant X46 XM_047439298.1:c.1149A>C S [TCA] > S [TCC] Coding Sequence Variant
transcription factor E2-alpha isoform X12 XP_047295254.1:p.Ser383= S (Ser) > S (Ser) 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.

Allele: C (allele ID: 1158421 )
ClinVar Accession Disease Names Clinical Significance
RCV001516622.6 not provided Benign
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 T= A C G
GRCh38.p14 chr 19 NC_000019.10:g.1619340= NC_000019.10:g.1619340T>A NC_000019.10:g.1619340T>C NC_000019.10:g.1619340T>G
GRCh37.p13 chr 19 NC_000019.9:g.1619339= NC_000019.9:g.1619339T>A NC_000019.9:g.1619339T>C NC_000019.9:g.1619339T>G
TCF3 RefSeqGene (LRG_1325) NG_029953.2:g.38207= NG_029953.2:g.38207A>T NG_029953.2:g.38207A>G NG_029953.2:g.38207A>C
TCF3 transcript variant 1 NM_003200.5:c.1302= NM_003200.5:c.1302A>T NM_003200.5:c.1302A>G NM_003200.5:c.1302A>C
TCF3 transcript variant 1 NM_003200.4:c.1302= NM_003200.4:c.1302A>T NM_003200.4:c.1302A>G NM_003200.4:c.1302A>C
TCF3 transcript variant 1 NM_003200.3:c.1302= NM_003200.3:c.1302A>T NM_003200.3:c.1302A>G NM_003200.3:c.1302A>C
TCF3 transcript variant 2 NM_001136139.4:c.1302= NM_001136139.4:c.1302A>T NM_001136139.4:c.1302A>G NM_001136139.4:c.1302A>C
TCF3 transcript variant 2 NM_001136139.3:c.1302= NM_001136139.3:c.1302A>T NM_001136139.3:c.1302A>G NM_001136139.3:c.1302A>C
TCF3 transcript variant 2 NM_001136139.2:c.1302= NM_001136139.2:c.1302A>T NM_001136139.2:c.1302A>G NM_001136139.2:c.1302A>C
TCF3 transcript variant 4 NM_001351779.2:c.1302= NM_001351779.2:c.1302A>T NM_001351779.2:c.1302A>G NM_001351779.2:c.1302A>C
TCF3 transcript variant 4 NM_001351779.1:c.1302= NM_001351779.1:c.1302A>T NM_001351779.1:c.1302A>G NM_001351779.1:c.1302A>C
TCF3 transcript variant 3 NM_001351778.2:c.1299= NM_001351778.2:c.1299A>T NM_001351778.2:c.1299A>G NM_001351778.2:c.1299A>C
TCF3 transcript variant 3 NM_001351778.1:c.1299= NM_001351778.1:c.1299A>T NM_001351778.1:c.1299A>G NM_001351778.1:c.1299A>C
TCF3 transcript variant X5 XM_006722855.5:c.1389= XM_006722855.5:c.1389A>T XM_006722855.5:c.1389A>G XM_006722855.5:c.1389A>C
TCF3 transcript variant X16 XM_006722855.4:c.1389= XM_006722855.4:c.1389A>T XM_006722855.4:c.1389A>G XM_006722855.4:c.1389A>C
TCF3 transcript variant X9 XM_006722855.3:c.1389= XM_006722855.3:c.1389A>T XM_006722855.3:c.1389A>G XM_006722855.3:c.1389A>C
TCF3 transcript variant X9 XM_006722855.2:c.1389= XM_006722855.2:c.1389A>T XM_006722855.2:c.1389A>G XM_006722855.2:c.1389A>C
TCF3 transcript variant X5 XM_006722855.1:c.1389= XM_006722855.1:c.1389A>T XM_006722855.1:c.1389A>G XM_006722855.1:c.1389A>C
TCF3 transcript variant X32 XM_011528226.3:c.1299= XM_011528226.3:c.1299A>T XM_011528226.3:c.1299A>G XM_011528226.3:c.1299A>C
TCF3 transcript variant X31 XM_011528226.2:c.1299= XM_011528226.2:c.1299A>T XM_011528226.2:c.1299A>G XM_011528226.2:c.1299A>C
TCF3 transcript variant X18 XM_011528226.1:c.1299= XM_011528226.1:c.1299A>T XM_011528226.1:c.1299A>G XM_011528226.1:c.1299A>C
TCF3 transcript variant X31 XM_011528225.3:c.1302= XM_011528225.3:c.1302A>T XM_011528225.3:c.1302A>G XM_011528225.3:c.1302A>C
TCF3 transcript variant X30 XM_011528225.2:c.1302= XM_011528225.2:c.1302A>T XM_011528225.2:c.1302A>G XM_011528225.2:c.1302A>C
TCF3 transcript variant X17 XM_011528225.1:c.1302= XM_011528225.1:c.1302A>T XM_011528225.1:c.1302A>G XM_011528225.1:c.1302A>C
TCF3 transcript variant X22 XM_017027181.2:c.1302= XM_017027181.2:c.1302A>T XM_017027181.2:c.1302A>G XM_017027181.2:c.1302A>C
TCF3 transcript variant X27 XM_017027181.1:c.1302= XM_017027181.1:c.1302A>T XM_017027181.1:c.1302A>G XM_017027181.1:c.1302A>C
TCF3 transcript variant X6 XM_017027178.2:c.1389= XM_017027178.2:c.1389A>T XM_017027178.2:c.1389A>G XM_017027178.2:c.1389A>C
TCF3 transcript variant X17 XM_017027178.1:c.1389= XM_017027178.1:c.1389A>T XM_017027178.1:c.1389A>G XM_017027178.1:c.1389A>C
TCF3 transcript variant X15 XM_047439270.1:c.1302= XM_047439270.1:c.1302A>T XM_047439270.1:c.1302A>G XM_047439270.1:c.1302A>C
TCF3 transcript variant X20 XM_047439275.1:c.1299= XM_047439275.1:c.1299A>T XM_047439275.1:c.1299A>G XM_047439275.1:c.1299A>C
TCF3 transcript variant X8 XM_047439263.1:c.1302= XM_047439263.1:c.1302A>T XM_047439263.1:c.1302A>G XM_047439263.1:c.1302A>C
TCF3 transcript variant X11 XM_047439266.1:c.1299= XM_047439266.1:c.1299A>T XM_047439266.1:c.1299A>G XM_047439266.1:c.1299A>C
TCF3 transcript variant X17 XM_047439272.1:c.1302= XM_047439272.1:c.1302A>T XM_047439272.1:c.1302A>G XM_047439272.1:c.1302A>C
TCF3 transcript variant X16 XM_047439271.1:c.1299= XM_047439271.1:c.1299A>T XM_047439271.1:c.1299A>G XM_047439271.1:c.1299A>C
TCF3 transcript variant X40 XM_047439292.1:c.1149= XM_047439292.1:c.1149A>T XM_047439292.1:c.1149A>G XM_047439292.1:c.1149A>C
TCF3 transcript variant X9 XM_047439264.1:c.1302= XM_047439264.1:c.1302A>T XM_047439264.1:c.1302A>G XM_047439264.1:c.1302A>C
TCF3 transcript variant X12 XM_047439267.1:c.1299= XM_047439267.1:c.1299A>T XM_047439267.1:c.1299A>G XM_047439267.1:c.1299A>C
TCF3 transcript variant X13 XM_047439268.1:c.1302= XM_047439268.1:c.1302A>T XM_047439268.1:c.1302A>G XM_047439268.1:c.1302A>C
TCF3 transcript variant X18 XM_047439273.1:c.1299= XM_047439273.1:c.1299A>T XM_047439273.1:c.1299A>G XM_047439273.1:c.1299A>C
TCF3 transcript variant X41 XM_047439293.1:c.1149= XM_047439293.1:c.1149A>T XM_047439293.1:c.1149A>G XM_047439293.1:c.1149A>C
TCF3 transcript variant X21 XM_047439276.1:c.1302= XM_047439276.1:c.1302A>T XM_047439276.1:c.1302A>G XM_047439276.1:c.1302A>C
TCF3 transcript variant X27 XM_047439281.1:c.1302= XM_047439281.1:c.1302A>T XM_047439281.1:c.1302A>G XM_047439281.1:c.1302A>C
TCF3 transcript variant X1 XM_047439258.1:c.1389= XM_047439258.1:c.1389A>T XM_047439258.1:c.1389A>G XM_047439258.1:c.1389A>C
TCF3 transcript variant X4 XM_047439261.1:c.1386= XM_047439261.1:c.1386A>T XM_047439261.1:c.1386A>G XM_047439261.1:c.1386A>C
TCF3 transcript variant X25 XM_047439279.1:c.1299= XM_047439279.1:c.1299A>T XM_047439279.1:c.1299A>G XM_047439279.1:c.1299A>C
TCF3 transcript variant X28 XM_047439282.1:c.1302= XM_047439282.1:c.1302A>T XM_047439282.1:c.1302A>G XM_047439282.1:c.1302A>C
TCF3 transcript variant X39 XM_047439291.1:c.1299= XM_047439291.1:c.1299A>T XM_047439291.1:c.1299A>G XM_047439291.1:c.1299A>C
TCF3 transcript variant X34 XM_047439286.1:c.1299= XM_047439286.1:c.1299A>T XM_047439286.1:c.1299A>G XM_047439286.1:c.1299A>C
TCF3 transcript variant X33 XM_047439285.1:c.1302= XM_047439285.1:c.1302A>T XM_047439285.1:c.1302A>G XM_047439285.1:c.1302A>C
TCF3 transcript variant X38 XM_047439290.1:c.1299= XM_047439290.1:c.1299A>T XM_047439290.1:c.1299A>G XM_047439290.1:c.1299A>C
TCF3 transcript variant X43 XM_047439295.1:c.1149= XM_047439295.1:c.1149A>T XM_047439295.1:c.1149A>G XM_047439295.1:c.1149A>C
TCF3 transcript variant X42 XM_047439294.1:c.1149= XM_047439294.1:c.1149A>T XM_047439294.1:c.1149A>G XM_047439294.1:c.1149A>C
TCF3 transcript variant X45 XM_047439297.1:c.1149= XM_047439297.1:c.1149A>T XM_047439297.1:c.1149A>G XM_047439297.1:c.1149A>C
TCF3 transcript variant X46 XM_047439298.1:c.1149= XM_047439298.1:c.1149A>T XM_047439298.1:c.1149A>G XM_047439298.1:c.1149A>C
TCF3 transcript variant X10 XM_047439265.1:c.1302= XM_047439265.1:c.1302A>T XM_047439265.1:c.1302A>G XM_047439265.1:c.1302A>C
TCF3 transcript variant X14 XM_047439269.1:c.1302= XM_047439269.1:c.1302A>T XM_047439269.1:c.1302A>G XM_047439269.1:c.1302A>C
TCF3 transcript variant X36 XM_047439288.1:c.1302= XM_047439288.1:c.1302A>T XM_047439288.1:c.1302A>G XM_047439288.1:c.1302A>C
TCF3 transcript variant X19 XM_047439274.1:c.1299= XM_047439274.1:c.1299A>T XM_047439274.1:c.1299A>G XM_047439274.1:c.1299A>C
TCF3 transcript variant X3 XM_047439260.1:c.1389= XM_047439260.1:c.1389A>T XM_047439260.1:c.1389A>G XM_047439260.1:c.1389A>C
TCF3 transcript variant X7 XM_047439262.1:c.1389= XM_047439262.1:c.1389A>T XM_047439262.1:c.1389A>G XM_047439262.1:c.1389A>C
TCF3 transcript variant X26 XM_047439280.1:c.1299= XM_047439280.1:c.1299A>T XM_047439280.1:c.1299A>G XM_047439280.1:c.1299A>C
TCF3 transcript variant X23 XM_047439277.1:c.1302= XM_047439277.1:c.1302A>T XM_047439277.1:c.1302A>G XM_047439277.1:c.1302A>C
TCF3 transcript variant X35 XM_047439287.1:c.1302= XM_047439287.1:c.1302A>T XM_047439287.1:c.1302A>G XM_047439287.1:c.1302A>C
TCF3 transcript variant X29 XM_047439283.1:c.1302= XM_047439283.1:c.1302A>T XM_047439283.1:c.1302A>G XM_047439283.1:c.1302A>C
TCF3 transcript variant X44 XM_047439296.1:c.1149= XM_047439296.1:c.1149A>T XM_047439296.1:c.1149A>G XM_047439296.1:c.1149A>C
TCF3 transcript variant X2 XM_047439259.1:c.1389= XM_047439259.1:c.1389A>T XM_047439259.1:c.1389A>G XM_047439259.1:c.1389A>C
TCF3 transcript variant X24 XM_047439278.1:c.1302= XM_047439278.1:c.1302A>T XM_047439278.1:c.1302A>G XM_047439278.1:c.1302A>C
TCF3 transcript variant X37 XM_047439289.1:c.1302= XM_047439289.1:c.1302A>T XM_047439289.1:c.1302A>G XM_047439289.1:c.1302A>C
TCF3 transcript variant X30 XM_047439284.1:c.1302= XM_047439284.1:c.1302A>T XM_047439284.1:c.1302A>G XM_047439284.1:c.1302A>C
transcription factor E2-alpha isoform E12 NP_003191.1:p.Ser434= NP_003191.1:p.Ser434= NP_003191.1:p.Ser434= NP_003191.1:p.Ser434=
transcription factor E2-alpha isoform E47 NP_001129611.1:p.Ser434= NP_001129611.1:p.Ser434= NP_001129611.1:p.Ser434= NP_001129611.1:p.Ser434=
transcription factor E2-alpha isoform E47 NP_001338708.1:p.Ser434= NP_001338708.1:p.Ser434= NP_001338708.1:p.Ser434= NP_001338708.1:p.Ser434=
transcription factor E2-alpha isoform 3 NP_001338707.1:p.Ser433= NP_001338707.1:p.Ser433= NP_001338707.1:p.Ser433= NP_001338707.1:p.Ser433=
transcription factor E2-alpha isoform X3 XP_006722918.1:p.Ser463= XP_006722918.1:p.Ser463= XP_006722918.1:p.Ser463= XP_006722918.1:p.Ser463=
transcription factor E2-alpha isoform X8 XP_011526528.1:p.Ser433= XP_011526528.1:p.Ser433= XP_011526528.1:p.Ser433= XP_011526528.1:p.Ser433=
transcription factor E2-alpha isoform X7 XP_011526527.1:p.Ser434= XP_011526527.1:p.Ser434= XP_011526527.1:p.Ser434= XP_011526527.1:p.Ser434=
transcription factor E2-alpha isoform X4 XP_016882670.1:p.Ser434= XP_016882670.1:p.Ser434= XP_016882670.1:p.Ser434= XP_016882670.1:p.Ser434=
transcription factor E2-alpha isoform X3 XP_016882667.1:p.Ser463= XP_016882667.1:p.Ser463= XP_016882667.1:p.Ser463= XP_016882667.1:p.Ser463=
transcription factor E2-alpha isoform X7 XP_047295226.1:p.Ser434= XP_047295226.1:p.Ser434= XP_047295226.1:p.Ser434= XP_047295226.1:p.Ser434=
transcription factor E2-alpha isoform X9 XP_047295231.1:p.Ser433= XP_047295231.1:p.Ser433= XP_047295231.1:p.Ser433= XP_047295231.1:p.Ser433=
transcription factor E2-alpha isoform X4 XP_047295219.1:p.Ser434= XP_047295219.1:p.Ser434= XP_047295219.1:p.Ser434= XP_047295219.1:p.Ser434=
transcription factor E2-alpha isoform X5 XP_047295222.1:p.Ser433= XP_047295222.1:p.Ser433= XP_047295222.1:p.Ser433= XP_047295222.1:p.Ser433=
transcription factor E2-alpha isoform X7 XP_047295228.1:p.Ser434= XP_047295228.1:p.Ser434= XP_047295228.1:p.Ser434= XP_047295228.1:p.Ser434=
transcription factor E2-alpha isoform X8 XP_047295227.1:p.Ser433= XP_047295227.1:p.Ser433= XP_047295227.1:p.Ser433= XP_047295227.1:p.Ser433=
transcription factor E2-alpha isoform X10 XP_047295248.1:p.Ser383= XP_047295248.1:p.Ser383= XP_047295248.1:p.Ser383= XP_047295248.1:p.Ser383=
transcription factor E2-alpha isoform X4 XP_047295220.1:p.Ser434= XP_047295220.1:p.Ser434= XP_047295220.1:p.Ser434= XP_047295220.1:p.Ser434=
transcription factor E2-alpha isoform X5 XP_047295223.1:p.Ser433= XP_047295223.1:p.Ser433= XP_047295223.1:p.Ser433= XP_047295223.1:p.Ser433=
transcription factor E2-alpha isoform X6 XP_047295224.1:p.Ser434= XP_047295224.1:p.Ser434= XP_047295224.1:p.Ser434= XP_047295224.1:p.Ser434=
transcription factor E2-alpha isoform X8 XP_047295229.1:p.Ser433= XP_047295229.1:p.Ser433= XP_047295229.1:p.Ser433= XP_047295229.1:p.Ser433=
transcription factor E2-alpha isoform X10 XP_047295249.1:p.Ser383= XP_047295249.1:p.Ser383= XP_047295249.1:p.Ser383= XP_047295249.1:p.Ser383=
transcription factor E2-alpha isoform X4 XP_047295232.1:p.Ser434= XP_047295232.1:p.Ser434= XP_047295232.1:p.Ser434= XP_047295232.1:p.Ser434=
transcription factor E2-alpha isoform X6 XP_047295237.1:p.Ser434= XP_047295237.1:p.Ser434= XP_047295237.1:p.Ser434= XP_047295237.1:p.Ser434=
transcription factor E2-alpha isoform X1 XP_047295214.1:p.Ser463= XP_047295214.1:p.Ser463= XP_047295214.1:p.Ser463= XP_047295214.1:p.Ser463=
transcription factor E2-alpha isoform X2 XP_047295217.1:p.Ser462= XP_047295217.1:p.Ser462= XP_047295217.1:p.Ser462= XP_047295217.1:p.Ser462=
transcription factor E2-alpha isoform X5 XP_047295235.1:p.Ser433= XP_047295235.1:p.Ser433= XP_047295235.1:p.Ser433= XP_047295235.1:p.Ser433=
transcription factor E2-alpha isoform X6 XP_047295238.1:p.Ser434= XP_047295238.1:p.Ser434= XP_047295238.1:p.Ser434= XP_047295238.1:p.Ser434=
transcription factor E2-alpha isoform X9 XP_047295247.1:p.Ser433= XP_047295247.1:p.Ser433= XP_047295247.1:p.Ser433= XP_047295247.1:p.Ser433=
transcription factor E2-alpha isoform X8 XP_047295242.1:p.Ser433= XP_047295242.1:p.Ser433= XP_047295242.1:p.Ser433= XP_047295242.1:p.Ser433=
transcription factor E2-alpha isoform X7 XP_047295241.1:p.Ser434= XP_047295241.1:p.Ser434= XP_047295241.1:p.Ser434= XP_047295241.1:p.Ser434=
transcription factor E2-alpha isoform X9 XP_047295246.1:p.Ser433= XP_047295246.1:p.Ser433= XP_047295246.1:p.Ser433= XP_047295246.1:p.Ser433=
transcription factor E2-alpha isoform X11 XP_047295251.1:p.Ser383= XP_047295251.1:p.Ser383= XP_047295251.1:p.Ser383= XP_047295251.1:p.Ser383=
transcription factor E2-alpha isoform X11 XP_047295250.1:p.Ser383= XP_047295250.1:p.Ser383= XP_047295250.1:p.Ser383= XP_047295250.1:p.Ser383=
transcription factor E2-alpha isoform X10 XP_047295253.1:p.Ser383= XP_047295253.1:p.Ser383= XP_047295253.1:p.Ser383= XP_047295253.1:p.Ser383=
transcription factor E2-alpha isoform X12 XP_047295254.1:p.Ser383= XP_047295254.1:p.Ser383= XP_047295254.1:p.Ser383= XP_047295254.1:p.Ser383=
transcription factor E2-alpha isoform X4 XP_047295221.1:p.Ser434= XP_047295221.1:p.Ser434= XP_047295221.1:p.Ser434= XP_047295221.1:p.Ser434=
transcription factor E2-alpha isoform X6 XP_047295225.1:p.Ser434= XP_047295225.1:p.Ser434= XP_047295225.1:p.Ser434= XP_047295225.1:p.Ser434=
transcription factor E2-alpha isoform X7 XP_047295244.1:p.Ser434= XP_047295244.1:p.Ser434= XP_047295244.1:p.Ser434= XP_047295244.1:p.Ser434=
transcription factor E2-alpha isoform X8 XP_047295230.1:p.Ser433= XP_047295230.1:p.Ser433= XP_047295230.1:p.Ser433= XP_047295230.1:p.Ser433=
transcription factor E2-alpha isoform X1 XP_047295216.1:p.Ser463= XP_047295216.1:p.Ser463= XP_047295216.1:p.Ser463= XP_047295216.1:p.Ser463=
transcription factor E2-alpha isoform X3 XP_047295218.1:p.Ser463= XP_047295218.1:p.Ser463= XP_047295218.1:p.Ser463= XP_047295218.1:p.Ser463=
transcription factor E2-alpha isoform X5 XP_047295236.1:p.Ser433= XP_047295236.1:p.Ser433= XP_047295236.1:p.Ser433= XP_047295236.1:p.Ser433=
transcription factor E2-alpha isoform X4 XP_047295233.1:p.Ser434= XP_047295233.1:p.Ser434= XP_047295233.1:p.Ser434= XP_047295233.1:p.Ser434=
transcription factor E2-alpha isoform X7 XP_047295243.1:p.Ser434= XP_047295243.1:p.Ser434= XP_047295243.1:p.Ser434= XP_047295243.1:p.Ser434=
transcription factor E2-alpha isoform X6 XP_047295239.1:p.Ser434= XP_047295239.1:p.Ser434= XP_047295239.1:p.Ser434= XP_047295239.1:p.Ser434=
transcription factor E2-alpha isoform X11 XP_047295252.1:p.Ser383= XP_047295252.1:p.Ser383= XP_047295252.1:p.Ser383= XP_047295252.1:p.Ser383=
transcription factor E2-alpha isoform X1 XP_047295215.1:p.Ser463= XP_047295215.1:p.Ser463= XP_047295215.1:p.Ser463= XP_047295215.1:p.Ser463=
transcription factor E2-alpha isoform X4 XP_047295234.1:p.Ser434= XP_047295234.1:p.Ser434= XP_047295234.1:p.Ser434= XP_047295234.1:p.Ser434=
transcription factor E2-alpha isoform X7 XP_047295245.1:p.Ser434= XP_047295245.1:p.Ser434= XP_047295245.1:p.Ser434= XP_047295245.1:p.Ser434=
transcription factor E2-alpha isoform X6 XP_047295240.1:p.Ser434= XP_047295240.1:p.Ser434= XP_047295240.1:p.Ser434= XP_047295240.1:p.Ser434=
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#.

102 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss10089 Sep 19, 2000 (52)
2 LEE ss1529300 Oct 05, 2000 (102)
3 YUSUKE ss3214701 Sep 28, 2001 (102)
4 LEE ss4395521 May 29, 2002 (108)
5 LEE ss4418986 May 29, 2002 (108)
6 BCM_SSAHASNP ss14695654 Dec 05, 2003 (123)
7 CGAP-GAI ss16247938 Feb 27, 2004 (123)
8 CSHL-HAPMAP ss17620711 Feb 27, 2004 (123)
9 CSHL-HAPMAP ss19403223 Feb 27, 2004 (123)
10 SSAHASNP ss21520576 Apr 05, 2004 (123)
11 MGC_GENOME_DIFF ss28497685 Sep 24, 2004 (126)
12 MGC_GENOME_DIFF ss28512437 Sep 24, 2004 (126)
13 APPLERA_GI ss48420634 Mar 11, 2006 (126)
14 HGSV ss80938689 Dec 15, 2007 (130)
15 CANCER-GENOME ss86342626 Mar 23, 2008 (129)
16 BCMHGSC_JDW ss90880210 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss96248774 Feb 05, 2009 (130)
18 BGI ss106041851 Feb 05, 2009 (130)
19 1000GENOMES ss114736987 Jan 25, 2009 (130)
20 ENSEMBL ss136317134 Dec 01, 2009 (131)
21 ENSEMBL ss137513630 Dec 01, 2009 (131)
22 GMI ss155521989 Dec 01, 2009 (131)
23 SEATTLESEQ ss159737842 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167649412 Jul 04, 2010 (132)
25 BUSHMAN ss203584501 Jul 04, 2010 (132)
26 1000GENOMES ss228007370 Jul 14, 2010 (132)
27 1000GENOMES ss237577388 Jul 15, 2010 (132)
28 1000GENOMES ss243804700 Jul 15, 2010 (132)
29 BL ss255430874 May 09, 2011 (134)
30 GMI ss283096776 May 04, 2012 (137)
31 PJP ss292173045 May 09, 2011 (134)
32 1000GENOMES ss491143919 May 04, 2012 (137)
33 TISHKOFF ss565806815 Apr 25, 2013 (138)
34 SSMP ss661658901 Apr 25, 2013 (138)
35 NHLBI-ESP ss713457342 Apr 25, 2013 (138)
36 EVA-GONL ss994009769 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1067581215 Aug 21, 2014 (142)
38 1000GENOMES ss1362055636 Aug 21, 2014 (142)
39 DDI ss1428310841 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1637427498 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1680421531 Apr 01, 2015 (144)
42 EVA_EXAC ss1693233130 Apr 01, 2015 (144)
43 EVA_EXAC ss1693233131 Apr 01, 2015 (144)
44 EVA_DECODE ss1698072772 Apr 01, 2015 (144)
45 HAMMER_LAB ss1809171937 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1937486841 Feb 12, 2016 (147)
47 JJLAB ss2029518609 Sep 14, 2016 (149)
48 USC_VALOUEV ss2158030648 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2223689917 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2629257948 Nov 08, 2017 (151)
51 GRF ss2702634357 Nov 08, 2017 (151)
52 GNOMAD ss2743424978 Nov 08, 2017 (151)
53 GNOMAD ss2750002096 Nov 08, 2017 (151)
54 GNOMAD ss2959580368 Nov 08, 2017 (151)
55 SWEGEN ss3016957979 Nov 08, 2017 (151)
56 EVA_SAMSUNG_MC ss3023071405 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3028591867 Nov 08, 2017 (151)
58 CSHL ss3352159429 Nov 08, 2017 (151)
59 OMUKHERJEE_ADBS ss3646526383 Oct 12, 2018 (152)
60 URBANLAB ss3650851706 Oct 12, 2018 (152)
61 EGCUT_WGS ss3683807241 Jul 13, 2019 (153)
62 EVA_DECODE ss3702181952 Jul 13, 2019 (153)
63 ACPOP ss3742785519 Jul 13, 2019 (153)
64 EVA ss3755720327 Jul 13, 2019 (153)
65 PACBIO ss3788446071 Jul 13, 2019 (153)
66 PACBIO ss3793369480 Jul 13, 2019 (153)
67 PACBIO ss3798256044 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3820974429 Jul 13, 2019 (153)
69 EVA ss3825210243 Apr 27, 2020 (154)
70 EVA ss3825532190 Apr 27, 2020 (154)
71 EVA ss3825546796 Apr 27, 2020 (154)
72 EVA ss3825920369 Apr 27, 2020 (154)
73 EVA ss3835309775 Apr 27, 2020 (154)
74 EVA ss3841277519 Apr 27, 2020 (154)
75 EVA ss3846781346 Apr 27, 2020 (154)
76 SGDP_PRJ ss3887588533 Apr 27, 2020 (154)
77 KRGDB ss3937514794 Apr 27, 2020 (154)
78 KOGIC ss3980644547 Apr 27, 2020 (154)
79 FSA-LAB ss3984137538 Apr 27, 2021 (155)
80 EVA ss3986078537 Apr 27, 2021 (155)
81 EVA ss3986766304 Apr 27, 2021 (155)
82 TOPMED ss5065545699 Apr 27, 2021 (155)
83 TOMMO_GENOMICS ss5226350325 Apr 27, 2021 (155)
84 TOMMO_GENOMICS ss5226350326 Apr 27, 2021 (155)
85 EVA ss5236952773 Apr 27, 2021 (155)
86 EVA ss5237243982 Apr 27, 2021 (155)
87 1000G_HIGH_COVERAGE ss5306206640 Oct 16, 2022 (156)
88 TRAN_CS_UWATERLOO ss5314451248 Oct 16, 2022 (156)
89 HUGCELL_USP ss5498879576 Oct 16, 2022 (156)
90 1000G_HIGH_COVERAGE ss5611496266 Oct 16, 2022 (156)
91 EVA ss5624082587 Oct 16, 2022 (156)
92 SANFORD_IMAGENETICS ss5661822345 Oct 16, 2022 (156)
93 TOMMO_GENOMICS ss5784491231 Oct 16, 2022 (156)
94 TOMMO_GENOMICS ss5784491232 Oct 16, 2022 (156)
95 EVA ss5800072480 Oct 16, 2022 (156)
96 EVA ss5800216804 Oct 16, 2022 (156)
97 YY_MCH ss5817336585 Oct 16, 2022 (156)
98 EVA ss5840145119 Oct 16, 2022 (156)
99 EVA ss5848473708 Oct 16, 2022 (156)
100 EVA ss5852173707 Oct 16, 2022 (156)
101 EVA ss5927002515 Oct 16, 2022 (156)
102 EVA ss5953253922 Oct 16, 2022 (156)
103 1000Genomes NC_000019.9 - 1619339 Oct 12, 2018 (152)
104 1000Genomes_30x NC_000019.10 - 1619340 Oct 16, 2022 (156)
105 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 1619339 Oct 12, 2018 (152)
106 Genetic variation in the Estonian population NC_000019.9 - 1619339 Oct 12, 2018 (152)
107 ExAC

Submission ignored due to conflicting rows:
Row 3710987 (NC_000019.9:1619338:T:T 44051/87462, NC_000019.9:1619338:T:C 43411/87462)
Row 3710988 (NC_000019.9:1619338:T:T 87461/87462, NC_000019.9:1619338:T:G 1/87462)

- Oct 12, 2018 (152)
108 ExAC

Submission ignored due to conflicting rows:
Row 3710987 (NC_000019.9:1619338:T:T 44051/87462, NC_000019.9:1619338:T:C 43411/87462)
Row 3710988 (NC_000019.9:1619338:T:T 87461/87462, NC_000019.9:1619338:T:G 1/87462)

- Oct 12, 2018 (152)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 531886031 (NC_000019.10:1619339:T:C 73164/140054)
Row 531886032 (NC_000019.10:1619339:T:G 1/140072)

- Apr 27, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 531886031 (NC_000019.10:1619339:T:C 73164/140054)
Row 531886032 (NC_000019.10:1619339:T:G 1/140072)

- Apr 27, 2021 (155)
111 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12737533 (NC_000019.9:1619338:T:T 109726/209768, NC_000019.9:1619338:T:C 100042/209768)
Row 12737534 (NC_000019.9:1619338:T:T 209765/209768, NC_000019.9:1619338:T:G 3/209768)

- Jul 13, 2019 (153)
112 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12737533 (NC_000019.9:1619338:T:T 109726/209768, NC_000019.9:1619338:T:C 100042/209768)
Row 12737534 (NC_000019.9:1619338:T:T 209765/209768, NC_000019.9:1619338:T:G 3/209768)

- Jul 13, 2019 (153)
113 GO Exome Sequencing Project NC_000019.9 - 1619339 Oct 12, 2018 (152)
114 KOREAN population from KRGDB NC_000019.9 - 1619339 Apr 27, 2020 (154)
115 Korean Genome Project NC_000019.10 - 1619340 Apr 27, 2020 (154)
116 Northern Sweden NC_000019.9 - 1619339 Jul 13, 2019 (153)
117 Qatari NC_000019.9 - 1619339 Apr 27, 2020 (154)
118 SGDP_PRJ NC_000019.9 - 1619339 Apr 27, 2020 (154)
119 Siberian NC_000019.9 - 1619339 Apr 27, 2020 (154)
120 8.3KJPN

Submission ignored due to conflicting rows:
Row 84319632 (NC_000019.9:1619338:T:C 13963/16748)
Row 84319633 (NC_000019.9:1619338:T:G 8/16748)

- Apr 27, 2021 (155)
121 8.3KJPN

Submission ignored due to conflicting rows:
Row 84319632 (NC_000019.9:1619338:T:C 13963/16748)
Row 84319633 (NC_000019.9:1619338:T:G 8/16748)

- Apr 27, 2021 (155)
122 14KJPN

Submission ignored due to conflicting rows:
Row 118328335 (NC_000019.10:1619339:T:C 23573/28246)
Row 118328336 (NC_000019.10:1619339:T:G 10/28246)

- Oct 16, 2022 (156)
123 14KJPN

Submission ignored due to conflicting rows:
Row 118328335 (NC_000019.10:1619339:T:C 23573/28246)
Row 118328336 (NC_000019.10:1619339:T:G 10/28246)

- Oct 16, 2022 (156)
124 TopMed NC_000019.10 - 1619340 Apr 27, 2021 (155)
125 UK 10K study - Twins NC_000019.9 - 1619339 Oct 12, 2018 (152)
126 ALFA NC_000019.10 - 1619340 Apr 27, 2021 (155)
127 ClinVar RCV001516622.6 Oct 16, 2022 (156)
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)
rs1052702 Jan 04, 2002 (102)
rs3170421 Oct 08, 2002 (108)
rs10404755 Sep 24, 2004 (123)
rs17295011 Mar 11, 2006 (126)
rs17353539 Mar 11, 2006 (126)
rs17845300 Mar 11, 2006 (126)
rs17858135 Mar 11, 2006 (126)
rs59825844 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
11138589151 NC_000019.10:1619339:T:A NC_000019.10:1619339:T:A (self)
ss80938689, ss90880210, ss114736987, ss167649412, ss203584501, ss255430874, ss283096776, ss292173045, ss1698072772 NC_000019.8:1570338:T:C NC_000019.10:1619339:T:C (self)
75421673, 41805957, 29545489, 1667244, 44692188, 16070384, 19528763, 39605513, 10547002, 41805957, ss228007370, ss237577388, ss243804700, ss491143919, ss565806815, ss661658901, ss713457342, ss994009769, ss1067581215, ss1362055636, ss1428310841, ss1637427498, ss1680421531, ss1693233130, ss1809171937, ss1937486841, ss2029518609, ss2158030648, ss2629257948, ss2702634357, ss2743424978, ss2750002096, ss2959580368, ss3016957979, ss3023071405, ss3352159429, ss3646526383, ss3683807241, ss3742785519, ss3755720327, ss3788446071, ss3793369480, ss3798256044, ss3825210243, ss3825532190, ss3825546796, ss3825920369, ss3835309775, ss3841277519, ss3887588533, ss3937514794, ss3984137538, ss3986078537, ss3986766304, ss5226350325, ss5624082587, ss5661822345, ss5800072480, ss5800216804, ss5840145119, ss5848473708, ss5953253922 NC_000019.9:1619338:T:C NC_000019.10:1619339:T:C (self)
RCV001516622.6, 99022201, 37022548, 281091363, 11138589151, ss2223689917, ss3028591867, ss3650851706, ss3702181952, ss3820974429, ss3846781346, ss3980644547, ss5065545699, ss5236952773, ss5237243982, ss5306206640, ss5314451248, ss5498879576, ss5611496266, ss5784491231, ss5817336585, ss5852173707, ss5927002515 NC_000019.10:1619339:T:C NC_000019.10:1619339:T:C (self)
ss10089, ss1529300, ss3214701, ss4395521, ss4418986, ss14695654, ss16247938, ss17620711, ss19403223, ss21520576, ss28497685, ss28512437, ss48420634, ss86342626, ss96248774, ss106041851, ss136317134, ss137513630, ss155521989, ss159737842 NT_011255.14:1559338:T:C NC_000019.10:1619339:T:C (self)
44692188, ss1693233131, ss2743424978, ss3937514794, ss5226350326 NC_000019.9:1619338:T:G NC_000019.10:1619339:T:G (self)
11138589151, ss5784491232 NC_000019.10:1619339:T:G NC_000019.10:1619339:T: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 rs8140

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