HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717794T= , CM000674.2:g.12717794T= | GRCh38 |
NC_000012.11:g.12870728T= , CM000674.1:g.12870728T= | GRCh37 |
NC_000012.10:g.12761995T= | NCBI36 |
NG_016341.1:g.5427T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.-46T= | ENSP00000507272.1:n.-46T= | |
ENST00000682620.1:n.1631-1031T= | ||
ENST00000684771.1:n.585-1031T= | ||
ENST00000228872.9:c.-46T= MANE Select | ENSP00000228872.4:n.-46T= | |
ENST00000228872.8:c.-46T= | ENSP00000228872.4:n.-46T= | |
ENST00000477087.1:n.155-1031T= | ||
NM_004064.4:c.-46T= | NP_004055.1:n.-46T= | |
NM_004064.5:c.-46T= MANE Select | NP_004055.1:n.-46T= |