HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44251239G>C , CM000679.2:g.44251239G>C | GRCh38 |
NC_000017.10:g.42328607G>C , CM000679.1:g.42328607G>C | GRCh37 |
NC_000017.9:g.39684133G>C | NCBI36 |
NG_007498.1:g.21896C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262418.12:c.2575C>G MANE Select | ENSP00000262418.6:p.Leu859Val | |
ENST00000262418.10:c.2575C>G | ENSP00000262418.6:p.Leu859Val | |
ENST00000399246.3:c.1477C>G | ENSP00000382190.3:p.Leu493Val | |
NM_000342.3:c.2575C>G | NP_000333.1:p.Leu859Val | |
XM_005257593.3:c.2380C>G | XP_005257650.1:p.Leu794Val | |
XM_011525129.1:c.2485C>G | XP_011523431.1:p.Leu829Val | |
XM_005257593.5:c.2380C>G | XP_005257650.1:p.Leu794Val | |
XM_011525129.2:c.2485C>G | XP_011523431.1:p.Leu829Val | |
NM_000342.4:c.2575C>G MANE Select | NP_000333.1:p.Leu859Val |