HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154820A>C , CM000668.2:g.3154820A>C | GRCh38 |
NC_000006.11:g.3155054A>C , CM000668.1:g.3155054A>C | GRCh37 |
NC_000006.10:g.3100053A>C | NCBI36 |
NG_042223.1:g.7730T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.381T>G MANE Select | ENSP00000369703.2:p.Cys127Trp | |
ENST00000679400.1:n.437T>G | ||
ENST00000679907.1:n.769T>G | ||
ENST00000680036.1:n.1163T>G | ||
ENST00000680967.1:n.1471T>G | ||
ENST00000333628.3:c.381T>G | ENSP00000369703.2:p.Cys127Trp | |
ENST00000489942.1:n.576T>G | ||
NM_001069.2:c.381T>G | NP_001060.1:p.Cys127Trp | |
NM_001310315.1:c.126T>G | NP_001297244.1:p.Cys42Trp | |
NM_001069.3:c.381T>G MANE Select | NP_001060.1:p.Cys127Trp | |
NM_001310315.2:c.126T>G | NP_001297244.1:p.Cys42Trp |