HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307344C>G , CM000673.2:g.121307344C>G | GRCh38 |
NC_000011.9:g.121178053C>G , CM000673.1:g.121178053C>G | GRCh37 |
NC_000011.8:g.120683263C>G | NCBI36 |
NG_009446.1:g.19666C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.732C>G MANE Select | ENSP00000264027.4:p.Phe244Leu | |
ENST00000264027.8:c.732C>G | ENSP00000264027.4:p.Phe244Leu | |
ENST00000392789.2:c.732C>G | ENSP00000376539.2:p.Phe244Leu | |
ENST00000527183.1:n.1025C>G | ||
ENST00000534230.5:c.631+101C>G | ENSP00000432550.1:n.631+101C>G | |
NM_001024956.2:c.732C>G | NP_001020127.1:p.Phe244Leu | |
NM_006918.4:c.732C>G | NP_008849.2:p.Phe244Leu | |
NM_006918.5:c.732C>G MANE Select | NP_008849.2:p.Phe244Leu | |
NM_001024956.3:c.732C>G | NP_001020127.1:p.Phe244Leu |