Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97024509C>A , CM000669.2:g.97024509C>A | GRCh38 |
| NC_000007.13:g.96653821C>A , CM000669.1:g.96653821C>A | GRCh37 |
| NC_000007.12:g.96491757C>A | NCBI36 |
| NG_009220.1:g.5323G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005221.6:c.115G>T MANE Select | NP_005212.1:p.Glu39Ter |
| ENST00000648378.1:c.115G>T MANE Select | ENSP00000498116.1:p.Glu39Ter |
| NM_005221.5:c.115G>T | NP_005212.1:p.Glu39Ter |
| ENST00000222598.4:c.115G>T | ENSP00000222598.4:p.Glu39Ter |
| ENST00000486603.2:c.115G>T | ENSP00000475008.1:p.Glu39Ter |
| ENST00000493764.1:n.319G>T | |
| XM_011515860.1:c.115G>T | XP_011514162.1:p.Glu39Ter |
| XR_927389.1:n.323G>T |