HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94041214T>A , CM000663.2:g.94041214T>A | GRCh38 |
NC_000001.10:g.94506770T>A , CM000663.1:g.94506770T>A | GRCh37 |
NC_000001.9:g.94279358T>A | NCBI36 |
NG_009073.1:g.84936A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3517A>T MANE Select | ENSP00000359245.3:p.Ser1173Cys | |
ENST00000370225.3:c.3517A>T | ENSP00000359245.3:p.Ser1173Cys | |
ENST00000536513.5:c.-64-1125A>T | ENSP00000439707.2:n.-64-1125A>T | |
NM_000350.2:c.3517A>T | NP_000341.2:p.Ser1173Cys | |
NM_000350.3:c.3517A>T MANE Select | NP_000341.2:p.Ser1173Cys |