HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615456A>T , CM000668.2:g.151615456A>T | GRCh38 |
NC_000006.11:g.151936591A>T , CM000668.1:g.151936591A>T | GRCh37 |
NC_000006.10:g.151978284A>T | NCBI36 |
NG_021198.1:g.126417A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000239374.8:c.1724A>T MANE Select | ENSP00000239374.6:p.Glu575Val | |
ENST00000239374.7:c.1724A>T | ENSP00000239374.6:p.Glu575Val | |
ENST00000537358.1:n.510A>T | ||
NM_025059.3:c.1724A>T | NP_079335.2:p.Glu575Val | |
XM_011536147.1:c.1742A>T | XP_011534449.1:p.Glu581Val | |
XM_011536148.1:c.1541A>T | XP_011534450.1:p.Glu514Val | |
XM_011536147.2:c.1742A>T | XP_011534449.1:p.Glu581Val | |
XM_011536148.2:c.1541A>T | XP_011534450.1:p.Glu514Val | |
XR_001743865.1:n.129+1265T>A | ||
NM_025059.4:c.1724A>T MANE Select | NP_079335.2:p.Glu575Val |