HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307329T>G , CM000673.2:g.121307329T>G | GRCh38 |
NC_000011.9:g.121178038T>G , CM000673.1:g.121178038T>G | GRCh37 |
NC_000011.8:g.120683248T>G | NCBI36 |
NG_009446.1:g.19651T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.717T>G MANE Select | ENSP00000264027.4:p.Asn239Lys | |
ENST00000264027.8:c.717T>G | ENSP00000264027.4:p.Asn239Lys | |
ENST00000392789.2:c.717T>G | ENSP00000376539.2:p.Asn239Lys | |
ENST00000527183.1:n.1010T>G | ||
ENST00000534230.5:c.631+86T>G | ENSP00000432550.1:n.631+86T>G | |
NM_001024956.2:c.717T>G | NP_001020127.1:p.Asn239Lys | |
NM_006918.4:c.717T>G | NP_008849.2:p.Asn239Lys | |
NM_006918.5:c.717T>G MANE Select | NP_008849.2:p.Asn239Lys | |
NM_001024956.3:c.717T>G | NP_001020127.1:p.Asn239Lys |