HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615452T>G , CM000668.2:g.151615452T>G | GRCh38 |
NC_000006.11:g.151936587T>G , CM000668.1:g.151936587T>G | GRCh37 |
NC_000006.10:g.151978280T>G | NCBI36 |
NG_021198.1:g.126413T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1720T>G MANE Select | ENSP00000239374.6:p.Leu574Val | |
ENST00000239374.7:c.1720T>G | ENSP00000239374.6:p.Leu574Val | |
ENST00000537358.1:n.506T>G | ||
NM_025059.3:c.1720T>G | NP_079335.2:p.Leu574Val | |
XM_011536147.1:c.1738T>G | XP_011534449.1:p.Leu580Val | |
XM_011536148.1:c.1537T>G | XP_011534450.1:p.Leu513Val | |
XM_011536147.2:c.1738T>G | XP_011534449.1:p.Leu580Val | |
XM_011536148.2:c.1537T>G | XP_011534450.1:p.Leu513Val | |
XR_001743865.1:n.129+1269A>C | ||
NM_025059.4:c.1720T>G MANE Select | NP_079335.2:p.Leu574Val |