HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455994C>A , CM000679.2:g.7455994C>A | GRCh38 |
NC_000017.10:g.7359313C>A , CM000679.1:g.7359313C>A | GRCh37 |
NC_000017.9:g.7300037C>A | NCBI36 |
NG_008026.1:g.15908C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1365+53C>A MANE Select | ENSP00000304290.2:n.1365+53C>A | |
ENST00000306071.6:c.1365+53C>A | ENSP00000304290.2:n.1365+53C>A | |
ENST00000536404.6:c.1149+53C>A | ENSP00000439209.2:n.1149+53C>A | |
ENST00000575379.1:c.-28+53C>A | ENSP00000461751.1:n.-28+53C>A | |
ENST00000576360.1:c.1002+53C>A | ENSP00000459092.1:n.1002+53C>A | |
NM_000747.2:c.1365+53C>A | NP_000738.2:n.1365+53C>A | |
NM_000747.3:c.1365+53C>A MANE Select | NP_000738.2:n.1365+53C>A |