Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185146939G>A , CM000666.2:g.185146939G>A | GRCh38 |
| NC_000004.11:g.186068093G>A , CM000666.1:g.186068093G>A | GRCh37 |
| NC_000004.10:g.186305087G>A | NCBI36 |
| NG_013001.1:g.8677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.865G>A MANE Select | ENSP00000281456.5:p.Val289Met | |
| ENST00000281456.10:c.865G>A | ENSP00000281456.5:p.Val289Met | |
| ENST00000491736.1:c.*642G>A | ENSP00000476711.1:n.*642G>A | |
| NM_001151.3:c.865G>A | NP_001142.2:p.Val289Met | |
| NM_001151.4:c.865G>A MANE Select | NP_001142.2:p.Val289Met |