HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40838485C>G , CM000663.2:g.40838485C>G | GRCh38 |
NC_000001.10:g.41304157C>G , CM000663.1:g.41304157C>G | GRCh37 |
NC_000001.9:g.41076744C>G | NCBI36 |
NG_008139.1:g.59474C>G | |
NG_008139.2:g.59474C>G | |
NG_008139.3:g.59699C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000347132.10:c.2050C>G MANE Select | ENSP00000262916.6:p.Leu684Val | |
ENST00000347132.9:c.2050C>G | ENSP00000262916.6:p.Leu684Val | |
ENST00000443478.3:c.1631C>G | ||
ENST00000506017.1:n.1369C>G | ||
ENST00000509682.6:c.1888C>G | ENSP00000423756.2:p.Leu630Val | |
NM_004700.3:c.2050C>G | NP_004691.2:p.Leu684Val | |
NM_172163.2:c.1888C>G | NP_751895.1:p.Leu630Val | |
XM_017002792.1:c.1033C>G | XP_016858281.1:p.Leu345Val | |
NM_004700.4:c.2050C>G MANE Select | NP_004691.2:p.Leu684Val | |
NM_172163.3:c.1888C>G | NP_751895.1:p.Leu630Val |