HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18175134G>A , CM000681.2:g.18175134G>A | GRCh38 |
NC_000019.9:g.18285944G>A , CM000681.1:g.18285944G>A | GRCh37 |
NC_000019.8:g.18146944G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000407280.4:c.227G>A MANE Select | ENSP00000384886.1:p.Arg76Gln | |
ENST00000407280.3:c.227G>A | ENSP00000384886.1:p.Arg76Gln | |
ENST00000593731.1:c.*1663G>A | ENSP00000471914.1:n.*1663G>A | |
ENST00000597802.2:c.227G>A | ENSP00000470527.2:p.Arg76Gln | |
ENST00000600463.1:n.966G>A | ||
NM_006332.4:c.227G>A | NP_006323.2:p.Arg76Gln | |
NM_006332.5:c.227G>A MANE Select | NP_006323.2:p.Arg76Gln |