HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135952875G>C , CM000667.2:g.135952875G>C | GRCh38 |
NC_000005.9:g.135288564G>C , CM000667.1:g.135288564G>C | GRCh37 |
NC_000005.8:g.135316463G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274507.6:c.139C>G MANE Select | ENSP00000274507.1:p.Gln47Glu | |
ENST00000274507.5:c.139C>G | ENSP00000274507.1:p.Gln47Glu | |
ENST00000471827.1:n.242C>G | ||
ENST00000512872.1:c.-78C>G | ENSP00000427012.1:n.-78C>G | |
ENST00000514447.2:c.139C>G | ENSP00000421123.2:p.Gln47Glu | |
ENST00000522943.5:c.139C>G | ENSP00000429618.1:p.Gln47Glu | |
NM_002302.2:c.139C>G | NP_002293.2:p.Gln47Glu | |
NM_002302.3:c.139C>G MANE Select | NP_002293.2:p.Gln47Glu |