Linked Data
ClinVar Variation Id:
7490
ClinVar RCV Id:
RCV000007919
dbSNP Id:
rs113993968
ExAC:
10:124249119 G / A
gnomAD v2:
10-124249119-G-A
gnomAD v4:
10-122489603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122489603G>A , CM000672.2:g.122489603G>A | GRCh38 |
| NC_000010.10:g.124249119G>A , CM000672.1:g.124249119G>A | GRCh37 |
| NC_000010.9:g.124239109G>A | NCBI36 |
| NG_011554.1:g.33079G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.754G>A MANE Select | ENSP00000357980.3:p.Ala252Thr | |
| ENST00000648167.1:c.436G>A | ENSP00000498033.1:p.Ala146Thr | |
| ENST00000368984.7:c.754G>A | ENSP00000357980.3:p.Ala252Thr | |
| NM_002775.4:c.754G>A | NP_002766.1:p.Ala252Thr | |
| NM_002775.5:c.754G>A MANE Select | NP_002766.1:p.Ala252Thr |