HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21636011A>G , CM000669.2:g.21636011A>G | GRCh38 |
NC_000007.13:g.21675629A>G , CM000669.1:g.21675629A>G | GRCh37 |
NC_000007.12:g.21642154A>G | NCBI36 |
NG_012886.2:g.97797A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4641A>G MANE Select | ENSP00000475939.1:p.Glu1547= | |
ENST00000328843.10:c.4656A>G | ENSP00000330671.7:p.Glu1552= | |
ENST00000409508.7:c.4641A>G | ENSP00000475939.1:p.Glu1547= | |
ENST00000465593.1:n.667A>G | ||
ENST00000620169.4:c.4656A>G | ENSP00000481693.1:p.Glu1552= | |
NM_001277115.1:c.4641A>G | NP_001264044.1:p.Glu1547= | |
NM_001277115.2:c.4641A>G MANE Select | NP_001264044.1:p.Glu1547= |