HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615443A>C , CM000668.2:g.151615443A>C | GRCh38 |
NC_000006.11:g.151936578A>C , CM000668.1:g.151936578A>C | GRCh37 |
NC_000006.10:g.151978271A>C | NCBI36 |
NG_021198.1:g.126404A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000239374.8:c.1711A>C MANE Select | ENSP00000239374.6:p.Ile571Leu | |
ENST00000239374.7:c.1711A>C | ENSP00000239374.6:p.Ile571Leu | |
ENST00000537358.1:n.497A>C | ||
NM_025059.3:c.1711A>C | NP_079335.2:p.Ile571Leu | |
XM_011536147.1:c.1729A>C | XP_011534449.1:p.Ile577Leu | |
XM_011536148.1:c.1528A>C | XP_011534450.1:p.Ile510Leu | |
XM_011536147.2:c.1729A>C | XP_011534449.1:p.Ile577Leu | |
XM_011536148.2:c.1528A>C | XP_011534450.1:p.Ile510Leu | |
XR_001743865.1:n.129+1278T>G | ||
NM_025059.4:c.1711A>C MANE Select | NP_079335.2:p.Ile571Leu |