HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615444T>A , CM000668.2:g.151615444T>A | GRCh38 |
NC_000006.11:g.151936579T>A , CM000668.1:g.151936579T>A | GRCh37 |
NC_000006.10:g.151978272T>A | NCBI36 |
NG_021198.1:g.126405T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1712T>A MANE Select | ENSP00000239374.6:p.Ile571Asn | |
ENST00000239374.7:c.1712T>A | ENSP00000239374.6:p.Ile571Asn | |
ENST00000537358.1:n.498T>A | ||
NM_025059.3:c.1712T>A | NP_079335.2:p.Ile571Asn | |
XM_011536147.1:c.1730T>A | XP_011534449.1:p.Ile577Asn | |
XM_011536148.1:c.1529T>A | XP_011534450.1:p.Ile510Asn | |
XM_011536147.2:c.1730T>A | XP_011534449.1:p.Ile577Asn | |
XM_011536148.2:c.1529T>A | XP_011534450.1:p.Ile510Asn | |
XR_001743865.1:n.129+1277A>T | ||
NM_025059.4:c.1712T>A MANE Select | NP_079335.2:p.Ile571Asn |