HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160882066C>T , CM000663.2:g.160882066C>T | GRCh38 |
NC_000001.10:g.160851856C>T , CM000663.1:g.160851856C>T | GRCh37 |
NC_000001.9:g.159118480C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326245.4:c.296G>A MANE Select | ENSP00000323587.3:p.Arg99His | |
ENST00000326245.3:c.296G>A | ENSP00000323587.3:p.Arg99His | |
ENST00000464077.1:n.230G>A | ||
NM_017625.2:c.296G>A | NP_060095.2:p.Arg99His | |
NM_017625.3:c.296G>A MANE Select | NP_060095.2:p.Arg99His |