Linked Data
ClinVar Variation Id:
766638
ClinVar RCV Id:
RCV000945176
dbSNP Id:
rs769004874
ExAC:
3:183858286 T / C
gnomAD v2:
3-183858286-T-C
gnomAD v3:
3-184140498-T-C
gnomAD v4:
3-184140498-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140498T>C , CM000665.2:g.184140498T>C | GRCh38 |
| NC_000003.11:g.183858286T>C , CM000665.1:g.183858286T>C | GRCh37 |
| NC_000003.10:g.185340980T>C | NCBI36 |
| NG_015826.1:g.10477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.947T>C | ||
| ENST00000468748.7:n.1167T>C | ||
| ENST00000484154.2:n.1387-1427T>C | ||
| ENST00000491008.6:n.1672T>C | ||
| ENST00000492226.2:n.1181T>C | ||
| ENST00000492773.6:c.678T>C | ||
| ENST00000647636.1:c.924T>C | ENSP00000497505.1:p.Ala308= | |
| ENST00000647909.1:c.948T>C | ENSP00000498164.1:p.Ala316= | |
| ENST00000648145.1:c.692T>C | ||
| ENST00000648189.1:c.738T>C | ||
| ENST00000648256.1:c.896T>C | ENSP00000497356.1:n.896T>C | |
| ENST00000648314.1:c.*43T>C | ENSP00000496920.1:n.*43T>C | |
| ENST00000648599.1:c.*207T>C | ENSP00000497159.1:n.*207T>C | |
| ENST00000648630.1:c.918T>C | ENSP00000497887.1:p.Ala306= | |
| ENST00000648682.1:c.924T>C | ENSP00000498185.1:p.Ala308= | |
| ENST00000648882.1:c.*750T>C | ENSP00000497603.1:n.*750T>C | |
| ENST00000648890.1:c.924T>C | ENSP00000497503.1:p.Ala308= | |
| ENST00000648915.2:c.924T>C MANE Select | ENSP00000497160.1:p.Ala308= | |
| ENST00000649545.1:c.577+341T>C | ||
| ENST00000649688.1:c.*207T>C | ENSP00000497097.1:n.*207T>C | |
| ENST00000649814.1:n.973T>C | ||
| ENST00000650270.1:c.791T>C | ||
| ENST00000273783.7:c.924T>C | ENSP00000273783.3:p.Ala308= | |
| ENST00000432982.5:c.246-1739T>C | ||
| ENST00000444495.1:c.924T>C | ENSP00000409142.1:p.Ala308= | |
| ENST00000468748.5:n.637T>C | ||
| ENST00000479833.1:n.240T>C | ||
| ENST00000481054.5:n.1018T>C | ||
| ENST00000491144.5:n.1428T>C | ||
| ENST00000493740.1:n.154T>C | ||
| NM_003907.2:c.924T>C | NP_003898.2:p.Ala308= | |
| XM_011513265.1:c.174T>C | XP_011511567.1:p.Ala58= | |
| XM_011513266.1:c.87T>C | XP_011511568.1:p.Ala29= | |
| XR_924208.1:n.1875T>C | ||
| NM_003907.3:c.924T>C MANE Select | NP_003898.2:p.Ala308= | |
| XM_011513266.3:c.87T>C | XP_011511568.1:p.Ala29= | |
| XR_001740352.2:n.1287T>C | ||
| XR_001740353.2:n.1287T>C | ||
| XR_924208.2:n.1287T>C |