Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81594018T>A , CM000665.2:g.81594018T>A | GRCh38 |
| NC_000003.11:g.81643169T>A , CM000665.1:g.81643169T>A | GRCh37 |
| NC_000003.10:g.81725859T>A | NCBI36 |
| NG_011810.1:g.172783A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.998A>T MANE Select | ENSP00000410833.2:p.Glu333Val | |
| ENST00000429644.6:c.998A>T | ENSP00000410833.2:p.Glu333Val | |
| ENST00000489715.1:c.875A>T | ENSP00000419638.1:p.Glu292Val | |
| NM_000158.3:c.998A>T | NP_000149.3:p.Glu333Val | |
| NM_000158.4:c.998A>T MANE Select | NP_000149.4:p.Glu333Val |