HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717983C>G , CM000674.2:g.12717983C>G | GRCh38 |
NC_000012.11:g.12870917C>G , CM000674.1:g.12870917C>G | GRCh37 |
NC_000012.10:g.12762184C>G | NCBI36 |
NG_016341.1:g.5616C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.144C>G | ENSP00000507272.1:p.His48Gln | |
ENST00000682620.1:n.1631-842C>G | ||
ENST00000684771.1:n.585-842C>G | ||
ENST00000228872.9:c.144C>G MANE Select | ENSP00000228872.4:p.His48Gln | |
ENST00000228872.8:c.144C>G | ENSP00000228872.4:p.His48Gln | |
ENST00000396340.1:c.144C>G | ENSP00000379629.1:p.His48Gln | |
ENST00000442489.1:c.123C>G | ENSP00000407597.1:p.His41Gln | |
ENST00000477087.1:n.155-842C>G | ||
NM_004064.4:c.144C>G | NP_004055.1:p.His48Gln | |
NM_004064.5:c.144C>G MANE Select | NP_004055.1:p.His48Gln |