Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97024293C>T , CM000669.2:g.97024293C>T | GRCh38 |
| NC_000007.13:g.96653605C>T , CM000669.1:g.96653605C>T | GRCh37 |
| NC_000007.12:g.96491541C>T | NCBI36 |
| NG_009220.1:g.5539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648378.1:c.331G>A MANE Select | ENSP00000498116.1:p.Val111Ile | |
| ENST00000222598.4:c.331G>A | ENSP00000222598.4:p.Val111Ile | |
| ENST00000486603.2:c.331G>A | ENSP00000475008.1:p.Val111Ile | |
| ENST00000493764.1:n.535G>A | ||
| NM_005221.5:c.331G>A | NP_005212.1:p.Val111Ile | |
| XM_011515860.1:c.331G>A | XP_011514162.1:p.Val111Ile | |
| XR_927389.1:n.539G>A | ||
| NM_005221.6:c.331G>A MANE Select | NP_005212.1:p.Val111Ile |