Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911898G>A , CM000674.2:g.4911898G>A | GRCh38 |
| NC_000012.11:g.5021064G>A , CM000674.1:g.5021064G>A | GRCh37 |
| NC_000012.10:g.4891325G>A | NCBI36 |
| NG_011815.1:g.6992G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.520G>A MANE Select | NP_000208.2:p.Val174Ile |
| ENST00000382545.5:c.520G>A MANE Select | ENSP00000371985.3:p.Val174Ile |
| NM_000217.2:c.520G>A | NP_000208.2:p.Val174Ile |
| ENST00000382545.3:c.520G>A | ENSP00000371985.3:p.Val174Ile |
| ENST00000541095.1:n.105+1426G>A | |
| ENST00000543874.2:n.96+1426G>A | |
| ENST00000543874.3:n.105+1426G>A | |
| ENST00000639306.1:c.358G>A | ENSP00000492506.1:p.Val120Ile |