HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81705520G>T , CM000665.2:g.81705520G>T | GRCh38 |
NC_000003.11:g.81754671G>T , CM000665.1:g.81754671G>T | GRCh37 |
NC_000003.10:g.81837361G>T | NCBI36 |
NG_011810.1:g.61281C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.237C>A MANE Select | ENSP00000410833.2:p.His79Gln | |
ENST00000429644.6:c.237C>A | ENSP00000410833.2:p.His79Gln | |
ENST00000489715.1:c.114C>A | ENSP00000419638.1:p.His38Gln | |
NM_000158.3:c.237C>A | NP_000149.3:p.His79Gln | |
NM_000158.4:c.237C>A MANE Select | NP_000149.4:p.His79Gln |