HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942016A>G , CM000672.2:g.94942016A>G | GRCh38 |
NC_000010.10:g.96701773A>G , CM000672.1:g.96701773A>G | GRCh37 |
NC_000010.9:g.96691763A>G | NCBI36 |
NG_008385.1:g.8359A>G | |
NG_008385.2:g.8859A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.327A>G MANE Select | ENSP00000260682.6:p.Gly109= | |
ENST00000643112.1:c.327A>G | ENSP00000496202.1:p.Gly109= | |
ENST00000645207.1:n.480A>G | ||
ENST00000260682.6:c.327A>G | ENSP00000260682.6:p.Gly109= | |
ENST00000461906.1:n.352A>G | ||
ENST00000473496.1:n.98A>G | ||
NM_000771.3:c.327A>G | NP_000762.2:p.Gly109= | |
NM_000771.4:c.327A>G MANE Select | NP_000762.2:p.Gly109= |