HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786004A>T , CM000681.2:g.18786004A>T | GRCh38 |
NC_000019.9:g.18896814A>T , CM000681.1:g.18896814A>T | GRCh37 |
NC_000019.8:g.18757814A>T | NCBI36 |
NG_007070.1:g.10301T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1450T>A MANE Select | ENSP00000222271.2:p.Cys484Ser | |
ENST00000222271.6:c.1450T>A | ENSP00000222271.2:p.Cys484Ser | |
ENST00000425807.1:c.1291T>A | ENSP00000403792.1:p.Cys431Ser | |
ENST00000542601.6:c.1351T>A | ENSP00000439156.2:p.Cys451Ser | |
NM_000095.2:c.1450T>A | NP_000086.2:p.Cys484Ser | |
NM_000095.3:c.1450T>A MANE Select | NP_000086.2:p.Cys484Ser |