HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17849652T>A , CM000672.2:g.17849652T>A | GRCh38 |
NG_047011.1:g.45310T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000569591.3:c.1137T>A MANE Select | ENSP00000455897.1:p.Asp379Glu | |
ENST00000569591.2:c.1137T>A | ENSP00000455897.1:p.Asp379Glu | |
NM_002438.3:c.1137T>A | NP_002429.1:p.Asp379Glu | |
NM_002438.4:c.1137T>A MANE Select | NP_002429.1:p.Asp379Glu |