HGVS | Genome Assembly |
---|---|
NC_000023.11:g.21845355C>G , CM000685.2:g.21845355C>G | GRCh38 |
NC_000023.10:g.21863473C>G , CM000685.1:g.21863473C>G | GRCh37 |
NC_000023.9:g.21773394C>G | NCBI36 |
NG_012797.1:g.10818C>G | |
NG_012797.2:g.10818C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379484.10:c.409C>G MANE Select | ENSP00000368798.5:p.Leu137Val | |
ENST00000365779.2:c.409C>G | ENSP00000368796.1:p.Leu137Val | |
ENST00000379484.9:c.409C>G | ENSP00000368798.5:p.Leu137Val | |
ENST00000465888.1:n.508C>G | ||
NM_015884.3:c.409C>G | NP_056968.1:p.Leu137Val | |
NM_015884.4:c.409C>G MANE Select | NP_056968.1:p.Leu137Val |