HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717899G>T , CM000674.2:g.12717899G>T | GRCh38 |
NC_000012.11:g.12870833G>T , CM000674.1:g.12870833G>T | GRCh37 |
NC_000012.10:g.12762100G>T | NCBI36 |
NG_016341.1:g.5532G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.60G>T | ENSP00000507272.1:p.Gln20His | |
ENST00000682620.1:n.1631-926G>T | ||
ENST00000684771.1:n.585-926G>T | ||
ENST00000228872.9:c.60G>T MANE Select | ENSP00000228872.4:p.Gln20His | |
ENST00000228872.8:c.60G>T | ENSP00000228872.4:p.Gln20His | |
ENST00000396340.1:c.60G>T | ENSP00000379629.1:p.Gln20His | |
ENST00000442489.1:c.39G>T | ENSP00000407597.1:p.Gln13His | |
ENST00000477087.1:n.155-926G>T | ||
NM_004064.4:c.60G>T | NP_004055.1:p.Gln20His | |
NM_004064.5:c.60G>T MANE Select | NP_004055.1:p.Gln20His |