HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151901C>T , CM000681.2:g.55151901C>T | GRCh38 |
NC_000019.9:g.55663269C>T , CM000681.1:g.55663269C>T | GRCh37 |
NC_000019.8:g.60355081C>T | NCBI36 |
NG_007866.2:g.10832G>A , LRG_432:g.10832G>A | |
NG_011829.2:g.2338G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.566G>A MANE Select | ENSP00000341838.5:p.Gly189Glu | |
ENST00000665070.1:c.599G>A | ENSP00000499482.1:p.Gly200Glu | |
ENST00000344887.9:c.566G>A | ENSP00000341838.5:p.Gly189Glu | |
ENST00000585806.5:n.565G>A | ||
ENST00000588882.1:c.491G>A | ENSP00000466729.1:p.Gly164Glu | |
ENST00000589864.1:n.394G>A | ||
NM_000363.4:c.566G>A , LRG_432t1:c.566G>A | NP_000354.4:p.Gly189Glu | |
NM_000363.5:c.566G>A MANE Select | NP_000354.4:p.Gly189Glu |