HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718401A= , CM000674.2:g.12718401A= | GRCh38 |
NC_000012.11:g.12871335A= , CM000674.1:g.12871335A= | GRCh37 |
NC_000012.10:g.12762602A= | NCBI36 |
NG_016341.1:g.6034A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.475+87A= | ENSP00000507272.1:n.475+87A= | |
ENST00000682620.1:n.1631-424A= | ||
ENST00000684771.1:n.585-424A= | ||
ENST00000228872.9:c.475+87A= MANE Select | ENSP00000228872.4:n.475+87A= | |
ENST00000228872.8:c.475+87A= | ENSP00000228872.4:n.475+87A= | |
ENST00000396340.1:c.475+87A= | ENSP00000379629.1:n.475+87A= | |
ENST00000442489.1:c.193+348A= | ENSP00000407597.1:n.193+348A= | |
ENST00000477087.1:n.155-424A= | ||
NM_004064.4:c.475+87A= | NP_004055.1:n.475+87A= | |
NM_004064.5:c.475+87A= MANE Select | NP_004055.1:n.475+87A= |