HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942313C>G , CM000672.2:g.94942313C>G | GRCh38 |
NC_000010.10:g.96702070C>G , CM000672.1:g.96702070C>G | GRCh37 |
NC_000010.9:g.96692060C>G | NCBI36 |
NG_008385.1:g.8656C>G | |
NG_008385.2:g.9156C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.453C>G MANE Select | ENSP00000260682.6:p.Cys151Trp | |
ENST00000643112.1:c.453C>G | ENSP00000496202.1:p.Cys151Trp | |
ENST00000645207.1:n.606C>G | ||
ENST00000260682.6:c.453C>G | ENSP00000260682.6:p.Cys151Trp | |
ENST00000461906.1:n.478C>G | ||
ENST00000473496.1:n.224C>G | ||
NM_000771.3:c.453C>G | NP_000762.2:p.Cys151Trp | |
NM_000771.4:c.453C>G MANE Select | NP_000762.2:p.Cys151Trp |