Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42685737G>A , CM000665.2:g.42685737G>A | GRCh38 |
| NC_000003.11:g.42727229G>A , CM000665.1:g.42727229G>A | GRCh37 |
| NC_000003.10:g.42702233G>A | NCBI36 |
| NG_033035.1:g.5219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.119G>A MANE Select | ENSP00000287777.4:p.Gly40Asp | |
| ENST00000287777.4:c.119G>A | ENSP00000287777.4:p.Gly40Asp | |
| NM_152393.3:c.119G>A | NP_689606.2:p.Gly40Asp | |
| XM_005264866.2:c.119G>A | XP_005264923.1:p.Gly40Asp | |
| NM_152393.4:c.119G>A MANE Select | NP_689606.2:p.Gly40Asp |