HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014128A>T , CM000663.2:g.1014128A>T | GRCh38 |
NC_000001.10:g.949508A>T , CM000663.1:g.949508A>T | GRCh37 |
NC_000001.9:g.939371A>T | NCBI36 |
NG_033033.1:g.5662A>T | |
NG_033033.2:g.17991A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.124A>T | ENSP00000485643.1:p.Ser42Cys | |
ENST00000649529.1:c.148A>T MANE Select | ENSP00000496832.1:p.Ser50Cys | |
ENST00000379389.4:c.148A>T | ENSP00000368699.4:p.Ser50Cys | |
ENST00000624652.1:c.124A>T | ENSP00000485313.1:p.Ser42Cys | |
ENST00000624697.3:c.124A>T | ENSP00000485643.1:p.Ser42Cys | |
NM_005101.3:c.148A>T | NP_005092.1:p.Ser50Cys | |
NM_005101.4:c.148A>T MANE Select | NP_005092.1:p.Ser50Cys |