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