HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340172C>A , CM000667.2:g.146340172C>A | GRCh38 |
NC_000005.9:g.145719735C>A , CM000667.1:g.145719735C>A | GRCh37 |
NC_000005.8:g.145699928C>A | NCBI36 |
NG_011885.1:g.6149C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.745C>A MANE Select | ENSP00000495718.1:p.Gln249Lys | |
ENST00000230732.4:c.745C>A | ENSP00000230732.4:p.Gln249Lys | |
NM_002700.2:c.745C>A | NP_002691.1:p.Gln249Lys | |
NM_002700.3:c.745C>A MANE Select | NP_002691.1:p.Gln249Lys |