HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461989C>T , CM000667.2:g.45461989C>T | GRCh38 |
NC_000005.9:g.45462091C>T , CM000667.1:g.45462091C>T | GRCh37 |
NC_000005.8:g.45497848C>T | NCBI36 |
NG_042183.1:g.239130G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.868G>A MANE Select | ENSP00000307342.4:p.Asp290Asn | |
ENST00000637305.1:n.31G>A | ||
ENST00000673735.1:c.868G>A | ENSP00000501107.1:p.Asp290Asn | |
ENST00000303230.5:c.868G>A | ENSP00000307342.4:p.Asp290Asn | |
NM_021072.3:c.868G>A | NP_066550.2:p.Asp290Asn | |
NM_021072.4:c.868G>A MANE Select | NP_066550.2:p.Asp290Asn |