HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717882C>T , CM000674.2:g.12717882C>T | GRCh38 |
NC_000012.11:g.12870816C>T , CM000674.1:g.12870816C>T | GRCh37 |
NC_000012.10:g.12762083C>T | NCBI36 |
NG_016341.1:g.5515C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.43C>T | ENSP00000507272.1:p.Arg15Trp | |
ENST00000682620.1:n.1631-943C>T | ||
ENST00000684771.1:n.585-943C>T | ||
ENST00000228872.9:c.43C>T MANE Select | ENSP00000228872.4:p.Arg15Trp | |
ENST00000228872.8:c.43C>T | ENSP00000228872.4:p.Arg15Trp | |
ENST00000396340.1:c.43C>T | ENSP00000379629.1:p.Arg15Trp | |
ENST00000442489.1:c.22C>T | ENSP00000407597.1:p.Arg8Trp | |
ENST00000477087.1:n.155-943C>T | ||
NM_004064.4:c.43C>T | NP_004055.1:p.Arg15Trp | |
NM_004064.5:c.43C>T MANE Select | NP_004055.1:p.Arg15Trp |