HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615639T>G , CM000668.2:g.151615639T>G | GRCh38 |
NC_000006.11:g.151936774T>G , CM000668.1:g.151936774T>G | GRCh37 |
NC_000006.10:g.151978467T>G | NCBI36 |
NG_021198.1:g.126600T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1907T>G MANE Select | ENSP00000239374.6:p.Leu636Arg | |
ENST00000239374.7:c.1907T>G | ENSP00000239374.6:p.Leu636Arg | |
NM_025059.3:c.1907T>G | NP_079335.2:p.Leu636Arg | |
XM_011536147.1:c.1925T>G | XP_011534449.1:p.Leu642Arg | |
XM_011536148.1:c.1724T>G | XP_011534450.1:p.Leu575Arg | |
XM_011536147.2:c.1925T>G | XP_011534449.1:p.Leu642Arg | |
XM_011536148.2:c.1724T>G | XP_011534450.1:p.Leu575Arg | |
XR_001743865.1:n.129+1082A>C | ||
NM_025059.4:c.1907T>G MANE Select | NP_079335.2:p.Leu636Arg |