HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455886T= , CM000679.2:g.7455886T= | GRCh38 |
NC_000017.10:g.7359205T= , CM000679.1:g.7359205T= | GRCh37 |
NC_000017.9:g.7299929T= | NCBI36 |
NG_008026.1:g.15800T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1310T= MANE Select | ENSP00000304290.2:p.Val437= | |
ENST00000306071.6:c.1310T= | ENSP00000304290.2:p.Val437= | |
ENST00000536404.6:c.1094T= | ENSP00000439209.2:p.Val365= | |
ENST00000575379.1:c.-83T= | ENSP00000461751.1:n.-83T= | |
ENST00000576360.1:c.947T= | ENSP00000459092.1:p.Val316= | |
NM_000747.2:c.1310T= | NP_000738.2:p.Val437= | |
NM_000747.3:c.1310T= MANE Select | NP_000738.2:p.Val437= |