HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719298A>G , CM000667.2:g.71719298A>G | GRCh38 |
NC_000005.9:g.71015125A>G , CM000667.1:g.71015125A>G | GRCh37 |
NC_000005.8:g.71050881A>G | NCBI36 |
NG_015988.1:g.5136A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.5A>G MANE Select | ENSP00000296777.4:p.Glu2Gly | |
ENST00000296777.4:c.5A>G | ENSP00000296777.4:p.Glu2Gly | |
NM_004291.3:c.5A>G | NP_004282.1:p.Glu2Gly | |
NM_004291.4:c.5A>G MANE Select | NP_004282.1:p.Glu2Gly |