HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717894A>T , CM000674.2:g.12717894A>T | GRCh38 |
NC_000012.11:g.12870828A>T , CM000674.1:g.12870828A>T | GRCh37 |
NC_000012.10:g.12762095A>T | NCBI36 |
NG_016341.1:g.5527A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.55A>T | ENSP00000507272.1:p.Arg19Trp | |
ENST00000682620.1:n.1631-931A>T | ||
ENST00000684771.1:n.585-931A>T | ||
ENST00000228872.9:c.55A>T MANE Select | ENSP00000228872.4:p.Arg19Trp | |
ENST00000228872.8:c.55A>T | ENSP00000228872.4:p.Arg19Trp | |
ENST00000396340.1:c.55A>T | ENSP00000379629.1:p.Arg19Trp | |
ENST00000442489.1:c.34A>T | ENSP00000407597.1:p.Arg12Trp | |
ENST00000477087.1:n.155-931A>T | ||
NM_004064.4:c.55A>T | NP_004055.1:p.Arg19Trp | |
NM_004064.5:c.55A>T MANE Select | NP_004055.1:p.Arg19Trp |