Linked Data
ClinVar Variation Id:
309730
dbSNP Id:
rs79881935
ExAC:
12:53702801 G / A
gnomAD v2:
12-53702801-G-A
gnomAD v3:
12-53309017-G-A
gnomAD v4:
12-53309017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309017G>A , CM000674.2:g.53309017G>A | GRCh38 |
| NC_000012.11:g.53702801G>A , CM000674.1:g.53702801G>A | GRCh37 |
| NC_000012.10:g.51989068G>A | NCBI36 |
| NG_016775.1:g.17612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.939C>T MANE Select | ENSP00000209873.4:p.Val313= | |
| ENST00000546393.7:n.1784C>T | ||
| ENST00000546562.6:n.2003C>T | ||
| ENST00000547238.6:n.1575C>T | ||
| ENST00000547520.6:n.933C>T | ||
| ENST00000547757.2:c.-13C>T | ENSP00000448020.2:n.-13C>T | |
| ENST00000548880.2:n.1389C>T | ||
| ENST00000548931.6:c.459C>T | ENSP00000457518.1:p.Val153= | |
| ENST00000549450.6:n.873C>T | ||
| ENST00000552161.6:n.1895C>T | ||
| ENST00000672797.1:n.1392C>T | ||
| ENST00000672900.1:n.1737C>T | ||
| ENST00000209873.8:c.939C>T | ENSP00000209873.4:p.Val313= | |
| ENST00000394384.7:c.840C>T | ENSP00000377908.3:p.Val280= | |
| ENST00000546572.1:n.527C>T | ||
| ENST00000547520.5:n.643C>T | ||
| ENST00000548931.5:c.459C>T | ENSP00000457518.1:p.Val153= | |
| ENST00000550033.5:n.194C>T | ||
| ENST00000550286.5:c.567C>T | ENSP00000446885.1:p.Val189= | |
| ENST00000552876.5:n.1282C>T | ||
| NM_001173466.1:c.840C>T | NP_001166937.1:p.Val280= | |
| NM_015665.5:c.939C>T | NP_056480.1:p.Val313= | |
| XM_006719617.2:c.954C>T | XP_006719680.1:p.Val318= | |
| XM_006719619.2:c.954C>T | XP_006719682.1:p.Val318= | |
| XM_011538777.1:c.954C>T | XP_011537079.1:p.Val318= | |
| XM_011538778.1:c.939C>T | XP_011537080.1:p.Val313= | |
| XM_011538779.1:c.855C>T | XP_011537081.1:p.Val285= | |
| XM_011538780.1:c.840C>T | XP_011537082.1:p.Val280= | |
| XM_011538781.1:c.288C>T | XP_011537083.1:p.Val96= | |
| XM_011538778.2:c.939C>T | XP_011537080.1:p.Val313= | |
| XM_011538780.2:c.840C>T | XP_011537082.1:p.Val280= | |
| XR_001748875.2:n.960C>T | ||
| NM_015665.6:c.939C>T MANE Select | NP_056480.1:p.Val313= | |
| NM_001173466.2:c.840C>T | NP_001166937.1:p.Val280= |