Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81536940C>A , CM000665.2:g.81536940C>A | GRCh38 |
| NC_000003.11:g.81586091C>A , CM000665.1:g.81586091C>A | GRCh37 |
| NC_000003.10:g.81668781C>A | NCBI36 |
| NG_011810.1:g.229861G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1774G>T MANE Select | NP_000149.4:p.Glu592Ter |
| ENST00000429644.7:c.1774G>T MANE Select | ENSP00000410833.2:p.Glu592Ter |
| NM_000158.3:c.1774G>T | NP_000149.3:p.Glu592Ter |
| ENST00000429644.6:c.1774G>T | ENSP00000410833.2:p.Glu592Ter |
| ENST00000484687.1:n.175G>T | |
| ENST00000489715.1:c.1651G>T | ENSP00000419638.1:p.Glu551Ter |