HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17849609A>T , CM000672.2:g.17849609A>T | GRCh38 |
NG_047011.1:g.45267A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000569591.3:c.1094A>T MANE Select | ENSP00000455897.1:p.Gln365Leu | |
ENST00000569591.2:c.1094A>T | ENSP00000455897.1:p.Gln365Leu | |
NM_002438.3:c.1094A>T | NP_002429.1:p.Gln365Leu | |
NM_002438.4:c.1094A>T MANE Select | NP_002429.1:p.Gln365Leu |