HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307360A>G , CM000673.2:g.121307360A>G | GRCh38 |
NC_000011.9:g.121178069A>G , CM000673.1:g.121178069A>G | GRCh37 |
NC_000011.8:g.120683279A>G | NCBI36 |
NG_009446.1:g.19682A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.748A>G MANE Select | ENSP00000264027.4:p.Ile250Val | |
ENST00000264027.8:c.748A>G | ENSP00000264027.4:p.Ile250Val | |
ENST00000392789.2:c.748A>G | ENSP00000376539.2:p.Ile250Val | |
ENST00000527183.1:n.1041A>G | ||
ENST00000534230.5:c.632-97A>G | ENSP00000432550.1:n.632-97A>G | |
NM_001024956.2:c.748A>G | NP_001020127.1:p.Ile250Val | |
NM_006918.4:c.748A>G | NP_008849.2:p.Ile250Val | |
NM_006918.5:c.748A>G MANE Select | NP_008849.2:p.Ile250Val | |
NM_001024956.3:c.748A>G | NP_001020127.1:p.Ile250Val |