HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718281T= , CM000674.2:g.12718281T= | GRCh38 |
NC_000012.11:g.12871215T= , CM000674.1:g.12871215T= | GRCh37 |
NC_000012.10:g.12762482T= | NCBI36 |
NG_016341.1:g.5914T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.442T= | ENSP00000507272.1:p.Cys148= | |
ENST00000682620.1:n.1631-544T= | ||
ENST00000684771.1:n.585-544T= | ||
ENST00000228872.9:c.442T= MANE Select | ENSP00000228872.4:p.Cys148= | |
ENST00000228872.8:c.442T= | ENSP00000228872.4:p.Cys148= | |
ENST00000396340.1:c.442T= | ENSP00000379629.1:p.Cys148= | |
ENST00000442489.1:c.193+228T= | ENSP00000407597.1:n.193+228T= | |
ENST00000477087.1:n.155-544T= | ||
NM_004064.4:c.442T= | NP_004055.1:p.Cys148= | |
NM_004064.5:c.442T= MANE Select | NP_004055.1:p.Cys148= |