Linked Data
ClinVar Variation Id:
2776506
ClinVar RCV Id:
RCV003664728
dbSNP Id:
rs745984449
ExAC:
12:53701396 A / T
gnomAD v2:
12-53701396-A-T
gnomAD v4:
12-53307612-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307612A>T , CM000674.2:g.53307612A>T | GRCh38 |
| NC_000012.11:g.53701396A>T , CM000674.1:g.53701396A>T | GRCh37 |
| NC_000012.10:g.51987663A>T | NCBI36 |
| NG_016775.1:g.19017T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1518T>A MANE Select | ENSP00000209873.4:p.Ala506= | |
| ENST00000546562.6:n.2582T>A | ||
| ENST00000547238.6:n.2154T>A | ||
| ENST00000547520.6:n.1634T>A | ||
| ENST00000547757.2:c.*436T>A | ENSP00000448020.2:n.*436T>A | |
| ENST00000548931.6:c.953T>A | ENSP00000457518.1:p.Leu318Gln | |
| ENST00000549450.6:n.1452T>A | ||
| ENST00000672797.1:n.2007T>A | ||
| ENST00000209873.8:c.1518T>A | ENSP00000209873.4:p.Ala506= | |
| ENST00000394384.7:c.1419T>A | ENSP00000377908.3:p.Ala473= | |
| ENST00000548931.5:c.953T>A | ENSP00000457518.1:p.Leu318Gln | |
| ENST00000550286.5:c.1146T>A | ENSP00000446885.1:p.Ala382= | |
| ENST00000552876.5:n.1861T>A | ||
| NM_001173466.1:c.1419T>A | NP_001166937.1:p.Ala473= | |
| NM_015665.5:c.1518T>A | NP_056480.1:p.Ala506= | |
| XM_006719617.2:c.1533T>A | XP_006719680.1:p.Ala511= | |
| XM_011538777.1:c.1575T>A | XP_011537079.1:p.Ala525= | |
| XM_011538778.1:c.1560T>A | XP_011537080.1:p.Ala520= | |
| XM_011538779.1:c.1476T>A | XP_011537081.1:p.Ala492= | |
| XM_011538780.1:c.1461T>A | XP_011537082.1:p.Ala487= | |
| XM_011538781.1:c.909T>A | XP_011537083.1:p.Ala303= | |
| XM_011538778.2:c.1560T>A | XP_011537080.1:p.Ala520= | |
| XM_011538780.2:c.1461T>A | XP_011537082.1:p.Ala487= | |
| XR_001748875.2:n.1575T>A | ||
| NM_015665.6:c.1518T>A MANE Select | NP_056480.1:p.Ala506= | |
| NM_001173466.2:c.1419T>A | NP_001166937.1:p.Ala473= |