Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807843C>T , CM000674.2:g.52807843C>T | GRCh38 |
| NC_000012.11:g.53201627C>T , CM000674.1:g.53201627C>T | GRCh37 |
| NC_000012.10:g.51487894C>T | NCBI36 |
| NG_007380.1:g.11709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.1147G>A MANE Select | ENSP00000448220.1:p.Val383Met | |
| ENST00000548097.5:c.*659G>A | ENSP00000449755.1:n.*659G>A | |
| ENST00000551956.1:c.1147G>A | ENSP00000448220.1:p.Val383Met | |
| NM_002272.3:c.1147G>A | NP_002263.3:p.Val383Met | |
| NM_002272.4:c.1147G>A MANE Select | NP_002263.3:p.Val383Met |