HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186199032A>G , CM000666.2:g.186199032A>G | GRCh38 |
NC_000004.11:g.187120186A>G , CM000666.1:g.187120186A>G | GRCh37 |
NC_000004.10:g.187357180A>G | NCBI36 |
NG_007965.1:g.12513A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.750A>G MANE Select | ENSP00000368079.4:p.Glu250= | |
ENST00000378802.4:c.750A>G | ENSP00000368079.4:p.Glu250= | |
ENST00000507209.5:n.1591A>G | ||
NM_207352.3:c.750A>G | NP_997235.3:p.Glu250= | |
XM_005262935.2:c.750A>G | XP_005262992.1:p.Glu250= | |
XM_006714184.2:c.354A>G | XP_006714247.1:p.Glu118= | |
XM_005262935.4:c.750A>G | XP_005262992.1:p.Glu250= | |
XM_017008037.1:c.354A>G | XP_016863526.1:p.Glu118= | |
NM_207352.4:c.750A>G MANE Select | NP_997235.3:p.Glu250= |