HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455790C= , CM000679.2:g.7455790C= | GRCh38 |
NC_000017.10:g.7359109C= , CM000679.1:g.7359109C= | GRCh37 |
NC_000017.9:g.7299833C= | NCBI36 |
NG_008026.1:g.15704C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1218-4C= MANE Select | ENSP00000304290.2:n.1218-4C= | |
ENST00000306071.6:c.1218-4C= | ENSP00000304290.2:n.1218-4C= | |
ENST00000536404.6:c.1002-4C= | ENSP00000439209.2:n.1002-4C= | |
ENST00000570557.5:c.881-4C= | ||
ENST00000575379.1:c.-179C= | ENSP00000461751.1:n.-179C= | |
ENST00000576360.1:c.855-4C= | ENSP00000459092.1:n.855-4C= | |
NM_000747.2:c.1218-4C= | NP_000738.2:n.1218-4C= | |
NM_000747.3:c.1218-4C= MANE Select | NP_000738.2:n.1218-4C= |