HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307299T>G , CM000673.2:g.121307299T>G | GRCh38 |
NC_000011.9:g.121178008T>G , CM000673.1:g.121178008T>G | GRCh37 |
NC_000011.8:g.120683218T>G | NCBI36 |
NG_009446.1:g.19621T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.687T>G MANE Select | ENSP00000264027.4:p.His229Gln | |
ENST00000264027.8:c.687T>G | ENSP00000264027.4:p.His229Gln | |
ENST00000392789.2:c.687T>G | ENSP00000376539.2:p.His229Gln | |
ENST00000527183.1:n.980T>G | ||
ENST00000534230.5:c.631+56T>G | ENSP00000432550.1:n.631+56T>G | |
NM_001024956.2:c.687T>G | NP_001020127.1:p.His229Gln | |
NM_006918.4:c.687T>G | NP_008849.2:p.His229Gln | |
NM_006918.5:c.687T>G MANE Select | NP_008849.2:p.His229Gln | |
NM_001024956.3:c.687T>G | NP_001020127.1:p.His229Gln |