HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154483G>C , CM000668.2:g.3154483G>C | GRCh38 |
NC_000006.11:g.3154717G>C , CM000668.1:g.3154717G>C | GRCh37 |
NC_000006.10:g.3099716G>C | NCBI36 |
NG_042223.1:g.8067C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333628.4:c.718C>G MANE Select | ENSP00000369703.2:p.Leu240Val | |
ENST00000679400.1:n.774C>G | ||
ENST00000679907.1:n.1106C>G | ||
ENST00000680036.1:n.1500C>G | ||
ENST00000680967.1:n.1808C>G | ||
ENST00000333628.3:c.718C>G | ENSP00000369703.2:p.Leu240Val | |
NM_001069.2:c.718C>G | NP_001060.1:p.Leu240Val | |
NM_001310315.1:c.463C>G | NP_001297244.1:p.Leu155Val | |
NM_001069.3:c.718C>G MANE Select | NP_001060.1:p.Leu240Val | |
NM_001310315.2:c.463C>G | NP_001297244.1:p.Leu155Val |