HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17849631C>A , CM000672.2:g.17849631C>A | GRCh38 |
NG_047011.1:g.45289C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000569591.3:c.1116C>A MANE Select | ENSP00000455897.1:p.His372Gln | |
ENST00000569591.2:c.1116C>A | ENSP00000455897.1:p.His372Gln | |
NM_002438.3:c.1116C>A | NP_002429.1:p.His372Gln | |
NM_002438.4:c.1116C>A MANE Select | NP_002429.1:p.His372Gln |