HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151869C>T , CM000681.2:g.55151869C>T | GRCh38 |
NC_000019.9:g.55663237C>T , CM000681.1:g.55663237C>T | GRCh37 |
NC_000019.8:g.60355049C>T | NCBI36 |
NG_007866.2:g.10864G>A , LRG_432:g.10864G>A | |
NG_011829.2:g.2370G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.598G>A MANE Select | ENSP00000341838.5:p.Gly200Arg | |
ENST00000665070.1:c.631G>A | ENSP00000499482.1:p.Gly211Arg | |
ENST00000344887.9:c.598G>A | ENSP00000341838.5:p.Gly200Arg | |
ENST00000585806.5:n.597G>A | ||
ENST00000588882.1:c.523G>A | ENSP00000466729.1:p.Gly175Arg | |
ENST00000589864.1:n.426G>A | ||
NM_000363.4:c.598G>A , LRG_432t1:c.598G>A | NP_000354.4:p.Gly200Arg | |
NM_000363.5:c.598G>A MANE Select | NP_000354.4:p.Gly200Arg |