HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718315G= , CM000674.2:g.12718315G= | GRCh38 |
NC_000012.11:g.12871249G= , CM000674.1:g.12871249G= | GRCh37 |
NC_000012.10:g.12762516G= | NCBI36 |
NG_016341.1:g.5948G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.475+1G= | ENSP00000507272.1:n.475+1G= | |
ENST00000682620.1:n.1631-510G= | ||
ENST00000684771.1:n.585-510G= | ||
ENST00000228872.9:c.475+1G= MANE Select | ENSP00000228872.4:n.475+1G= | |
ENST00000228872.8:c.475+1G= | ENSP00000228872.4:n.475+1G= | |
ENST00000396340.1:c.475+1G= | ENSP00000379629.1:n.475+1G= | |
ENST00000442489.1:c.193+262G= | ENSP00000407597.1:n.193+262G= | |
ENST00000477087.1:n.155-510G= | ||
NM_004064.4:c.475+1G= | NP_004055.1:n.475+1G= | |
NM_004064.5:c.475+1G= MANE Select | NP_004055.1:n.475+1G= |