Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454341G>A , CM000679.2:g.7454341G>A | GRCh38 |
| NC_000017.10:g.7357660G>A , CM000679.1:g.7357660G>A | GRCh37 |
| NC_000017.9:g.7298384G>A | NCBI36 |
| NG_008026.1:g.14255G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.865G>A MANE Select | NP_000738.2:p.Val289Met |
| ENST00000306071.7:c.865G>A MANE Select | ENSP00000304290.2:p.Val289Met |
| NM_000747.2:c.865G>A | NP_000738.2:p.Val289Met |
| ENST00000306071.6:c.865G>A | ENSP00000304290.2:p.Val289Met |
| ENST00000536404.6:c.649G>A | ENSP00000439209.2:p.Val217Met |
| ENST00000570557.5:c.528G>A | |
| ENST00000573209.1:n.1809G>A | |
| ENST00000576360.1:c.605-103G>A | ENSP00000459092.1:n.605-103G>A |