HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340227A>C , CM000667.2:g.146340227A>C | GRCh38 |
NC_000005.9:g.145719790A>C , CM000667.1:g.145719790A>C | GRCh37 |
NC_000005.8:g.145699983A>C | NCBI36 |
NG_011885.1:g.6204A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.800A>C MANE Select | ENSP00000495718.1:p.Glu267Ala | |
ENST00000230732.4:c.800A>C | ENSP00000230732.4:p.Glu267Ala | |
NM_002700.2:c.800A>C | NP_002691.1:p.Glu267Ala | |
NM_002700.3:c.800A>C MANE Select | NP_002691.1:p.Glu267Ala |