HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455876C>A , CM000679.2:g.7455876C>A | GRCh38 |
NC_000017.10:g.7359195C>A , CM000679.1:g.7359195C>A | GRCh37 |
NC_000017.9:g.7299919C>A | NCBI36 |
NG_008026.1:g.15790C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1300C>A MANE Select | ENSP00000304290.2:p.Arg434= | |
ENST00000306071.6:c.1300C>A | ENSP00000304290.2:p.Arg434= | |
ENST00000536404.6:c.1084C>A | ENSP00000439209.2:p.Arg362= | |
ENST00000575379.1:c.-93C>A | ENSP00000461751.1:n.-93C>A | |
ENST00000576360.1:c.937C>A | ENSP00000459092.1:p.Arg313= | |
NM_000747.2:c.1300C>A | NP_000738.2:p.Arg434= | |
NM_000747.3:c.1300C>A MANE Select | NP_000738.2:p.Arg434= |