Linked Data
dbSNP Id:
rs754351568
ExAC:
10:124266275 C / A
gnomAD v2:
10-124266275-C-A
gnomAD v4:
10-122506759-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506759C>A , CM000672.2:g.122506759C>A | GRCh38 |
| NC_000010.10:g.124266275C>A , CM000672.1:g.124266275C>A | GRCh37 |
| NC_000010.9:g.124256265C>A | NCBI36 |
| NG_011554.1:g.50235C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.846C>A MANE Select | ENSP00000357980.3:p.Ile282= | |
| ENST00000648167.1:c.528C>A | ENSP00000498033.1:p.Ile176= | |
| ENST00000368984.7:c.846C>A | ENSP00000357980.3:p.Ile282= | |
| ENST00000420892.1:c.69C>A | ENSP00000412676.1:p.Ile23= | |
| NM_002775.4:c.846C>A | NP_002766.1:p.Ile282= | |
| NM_002775.5:c.846C>A MANE Select | NP_002766.1:p.Ile282= |