HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154802G>C , CM000668.2:g.3154802G>C | GRCh38 |
NC_000006.11:g.3155036G>C , CM000668.1:g.3155036G>C | GRCh37 |
NC_000006.10:g.3100035G>C | NCBI36 |
NG_042223.1:g.7748C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.399C>G MANE Select | ENSP00000369703.2:p.Phe133Leu | |
ENST00000679400.1:n.455C>G | ||
ENST00000679907.1:n.787C>G | ||
ENST00000680036.1:n.1181C>G | ||
ENST00000680967.1:n.1489C>G | ||
ENST00000333628.3:c.399C>G | ENSP00000369703.2:p.Phe133Leu | |
ENST00000489942.1:n.594C>G | ||
NM_001069.2:c.399C>G | NP_001060.1:p.Phe133Leu | |
NM_001310315.1:c.144C>G | NP_001297244.1:p.Phe48Leu | |
NM_001069.3:c.399C>G MANE Select | NP_001060.1:p.Phe133Leu | |
NM_001310315.2:c.144C>G | NP_001297244.1:p.Phe48Leu |