Linked Data
ClinVar Variation Id:
309732
dbSNP Id:
rs199636211
ExAC:
12:53702982 G / A
gnomAD v2:
12-53702982-G-A
gnomAD v3:
12-53309198-G-A
gnomAD v4:
12-53309198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309198G>A , CM000674.2:g.53309198G>A | GRCh38 |
| NC_000012.11:g.53702982G>A , CM000674.1:g.53702982G>A | GRCh37 |
| NC_000012.10:g.51989249G>A | NCBI36 |
| NG_016775.1:g.17431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.894C>T MANE Select | ENSP00000209873.4:p.Asp298= | |
| ENST00000546393.7:n.1739C>T | ||
| ENST00000546562.6:n.1958C>T | ||
| ENST00000547238.6:n.1530C>T | ||
| ENST00000547520.6:n.888C>T | ||
| ENST00000547757.2:c.-58C>T | ENSP00000448020.2:n.-58C>T | |
| ENST00000548880.2:n.1344C>T | ||
| ENST00000548931.6:c.414C>T | ENSP00000457518.1:p.Asp138= | |
| ENST00000549450.6:n.828C>T | ||
| ENST00000552161.6:n.1850C>T | ||
| ENST00000672797.1:n.1347C>T | ||
| ENST00000672900.1:n.1692C>T | ||
| ENST00000209873.8:c.894C>T | ENSP00000209873.4:p.Asp298= | |
| ENST00000394384.7:c.795C>T | ENSP00000377908.3:p.Asp265= | |
| ENST00000546393.6:n.791C>T | ||
| ENST00000546572.1:n.346C>T | ||
| ENST00000547520.5:n.598C>T | ||
| ENST00000547757.1:c.795C>T | ENSP00000448020.1:p.Asp265= | |
| ENST00000547761.6:n.786C>T | ||
| ENST00000548931.5:c.414C>T | ENSP00000457518.1:p.Asp138= | |
| ENST00000550033.5:n.149C>T | ||
| ENST00000550286.5:c.522C>T | ENSP00000446885.1:p.Asp174= | |
| ENST00000552876.5:n.1237C>T | ||
| NM_001173466.1:c.795C>T | NP_001166937.1:p.Asp265= | |
| NM_015665.5:c.894C>T | NP_056480.1:p.Asp298= | |
| XM_006719617.2:c.909C>T | XP_006719680.1:p.Asp303= | |
| XM_006719619.2:c.909C>T | XP_006719682.1:p.Asp303= | |
| XM_011538777.1:c.909C>T | XP_011537079.1:p.Asp303= | |
| XM_011538778.1:c.894C>T | XP_011537080.1:p.Asp298= | |
| XM_011538779.1:c.810C>T | XP_011537081.1:p.Asp270= | |
| XM_011538780.1:c.795C>T | XP_011537082.1:p.Asp265= | |
| XM_011538781.1:c.243C>T | XP_011537083.1:p.Asp81= | |
| XM_011538778.2:c.894C>T | XP_011537080.1:p.Asp298= | |
| XM_011538780.2:c.795C>T | XP_011537082.1:p.Asp265= | |
| XR_001748875.2:n.915C>T | ||
| NM_015665.6:c.894C>T MANE Select | NP_056480.1:p.Asp298= | |
| NM_001173466.2:c.795C>T | NP_001166937.1:p.Asp265= |