HGVS | Genome Assembly |
---|---|
NC_000010.11:g.93587284G>A , CM000672.2:g.93587284G>A | GRCh38 |
NC_000010.10:g.95347041G>A , CM000672.1:g.95347041G>A | GRCh37 |
NC_000010.9:g.95337031G>A | NCBI36 |
NG_032670.1:g.25620G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371481.9:c.761G>A MANE Select | ENSP00000360536.5:p.Arg254His | |
ENST00000371481.8:c.761G>A | ENSP00000360536.4:p.Arg254His | |
ENST00000371483.8:c.809G>A | ENSP00000360538.4:p.Arg270His | |
ENST00000604414.1:c.696+11065G>A | ENSP00000474477.1:n.696+11065G>A | |
NM_001195755.1:c.761G>A | NP_001182684.1:p.Arg254His | |
NM_181745.3:c.809G>A | NP_859529.2:p.Arg270His | |
NM_001195755.2:c.761G>A MANE Select | NP_001182684.1:p.Arg254His | |
NM_181745.4:c.809G>A | NP_859529.2:p.Arg270His |