HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718283C>G , CM000674.2:g.12718283C>G | GRCh38 |
NC_000012.11:g.12871217C>G , CM000674.1:g.12871217C>G | GRCh37 |
NC_000012.10:g.12762484C>G | NCBI36 |
NG_016341.1:g.5916C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.444C>G | ENSP00000507272.1:p.Cys148Trp | |
ENST00000682620.1:n.1631-542C>G | ||
ENST00000684771.1:n.585-542C>G | ||
ENST00000228872.9:c.444C>G MANE Select | ENSP00000228872.4:p.Cys148Trp | |
ENST00000228872.8:c.444C>G | ENSP00000228872.4:p.Cys148Trp | |
ENST00000396340.1:c.444C>G | ENSP00000379629.1:p.Cys148Trp | |
ENST00000442489.1:c.193+230C>G | ENSP00000407597.1:n.193+230C>G | |
ENST00000477087.1:n.155-542C>G | ||
NM_004064.4:c.444C>G | NP_004055.1:p.Cys148Trp | |
NM_004064.5:c.444C>G MANE Select | NP_004055.1:p.Cys148Trp |