Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872203G>A , CM000671.2:g.130872203G>A | GRCh38 |
| NC_000009.11:g.133747590G>A , CM000671.1:g.133747590G>A | GRCh37 |
| NC_000009.10:g.132737411G>A | NCBI36 |
| NG_012034.1:g.163323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.954G>A | ENSP00000361423.2:p.Val318= | |
| ENST00000318560.6:c.897G>A MANE Select | ENSP00000323315.5:p.Val299= | |
| ENST00000372348.7:c.954G>A | ENSP00000361423.2:p.Val318= | |
| ENST00000318560.5:c.897G>A | ENSP00000323315.5:p.Val299= | |
| ENST00000372348.6:c.954G>A | ENSP00000361423.2:p.Val318= | |
| NM_005157.5:c.897G>A | NP_005148.2:p.Val299= | |
| NM_007313.2:c.954G>A | NP_009297.2:p.Val318= | |
| NM_005157.6:c.897G>A MANE Select | NP_005148.2:p.Val299= | |
| NM_007313.3:c.954G>A | NP_009297.2:p.Val318= |