HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787594C>G , CM000681.2:g.18787594C>G | GRCh38 |
NC_000019.9:g.18898403C>G , CM000681.1:g.18898403C>G | GRCh37 |
NC_000019.8:g.18759403C>G | NCBI36 |
NG_007070.1:g.8712G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1032G>C MANE Select | ENSP00000222271.2:p.Trp344Cys | |
ENST00000222271.6:c.1032G>C | ENSP00000222271.2:p.Trp344Cys | |
ENST00000425807.1:c.873G>C | ENSP00000403792.1:p.Trp291Cys | |
ENST00000542601.6:c.933G>C | ENSP00000439156.2:p.Trp311Cys | |
NM_000095.2:c.1032G>C | NP_000086.2:p.Trp344Cys | |
NM_000095.3:c.1032G>C MANE Select | NP_000086.2:p.Trp344Cys |