HGVS | Genome Assembly |
---|---|
NC_000002.12:g.174753595C>T , CM000664.2:g.174753595C>T | GRCh38 |
NC_000002.11:g.175618323C>T , CM000664.1:g.175618323C>T | GRCh37 |
NC_000002.10:g.175326569C>T | NCBI36 |
NG_008172.1:g.15878G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000636168.2:c.197G>A | ENSP00000490338.2:p.Arg66His | |
ENST00000672640.1:c.197G>A | ENSP00000500507.1:p.Arg66His | |
ENST00000261007.9:c.761G>A | ENSP00000261007.5:p.Arg254His | |
ENST00000348749.9:c.686G>A MANE Select | ENSP00000261008.5:p.Arg229His | |
ENST00000409219.5:c.686G>A | ENSP00000386611.1:p.Arg229His | |
ENST00000409323.1:c.686G>A | ENSP00000386684.1:p.Arg229His | |
ENST00000409542.5:c.440G>A | ENSP00000387026.1:p.Arg147His | |
ENST00000435083.5:c.*330G>A | ENSP00000395805.1:n.*330G>A | |
NM_000079.3:c.686G>A | NP_000070.1:p.Arg229His | |
NM_001039523.2:c.761G>A | NP_001034612.1:p.Arg254His | |
XM_017003256.1:c.782G>A | XP_016858745.1:p.Arg261His | |
XM_017003257.1:c.707G>A | XP_016858746.1:p.Arg236His | |
NM_000079.4:c.686G>A MANE Select | NP_000070.1:p.Arg229His | |
NM_001039523.3:c.761G>A | NP_001034612.1:p.Arg254His |