HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820262T>A , CM000682.2:g.31820262T>A | GRCh38 |
NC_000020.10:g.30408065T>A , CM000682.1:g.30408065T>A | GRCh37 |
NC_000020.9:g.29871726T>A | NCBI36 |
NG_012847.1:g.5888T>A , LRG_392:g.5888T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375985.5:c.189T>A MANE Select | ENSP00000365152.4:p.Asp63Glu | |
ENST00000375985.4:c.189T>A | ENSP00000365152.4:p.Asp63Glu | |
ENST00000375994.6:c.189T>A | ENSP00000365162.2:p.Asp63Glu | |
NM_033118.3:c.189T>A , LRG_392t1:c.189T>A | NP_149109.1:p.Asp63Glu | |
XR_244155.1:n.354T>A | ||
NM_033118.4:c.189T>A MANE Select | NP_149109.1:p.Asp63Glu |