HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154101C>A , CM000681.2:g.55154101C>A | GRCh38 |
NC_000019.9:g.55665469C>A , CM000681.1:g.55665469C>A | GRCh37 |
NC_000019.8:g.60357281C>A | NCBI36 |
NG_007866.2:g.8632G>T , LRG_432:g.8632G>T | |
NG_011829.2:g.138G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.478G>T MANE Select | ENSP00000341838.5:p.Gly160Trp | |
ENST00000665070.1:c.511G>T | ENSP00000499482.1:p.Gly171Trp | |
ENST00000344887.9:c.478G>T | ENSP00000341838.5:p.Gly160Trp | |
ENST00000585806.5:n.477G>T | ||
ENST00000588882.1:c.403G>T | ENSP00000466729.1:p.Gly135Trp | |
ENST00000589864.1:n.306G>T | ||
NM_000363.4:c.478G>T , LRG_432t1:c.478G>T | NP_000354.4:p.Gly160Trp | |
NM_000363.5:c.478G>T MANE Select | NP_000354.4:p.Gly160Trp |