HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154726A>C , CM000668.2:g.3154726A>C | GRCh38 |
NC_000006.11:g.3154960A>C , CM000668.1:g.3154960A>C | GRCh37 |
NC_000006.10:g.3099959A>C | NCBI36 |
NG_042223.1:g.7824T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.475T>G MANE Select | ENSP00000369703.2:p.Tyr159Asp | |
ENST00000679400.1:n.531T>G | ||
ENST00000679907.1:n.863T>G | ||
ENST00000680036.1:n.1257T>G | ||
ENST00000680967.1:n.1565T>G | ||
ENST00000333628.3:c.475T>G | ENSP00000369703.2:p.Tyr159Asp | |
ENST00000489942.1:n.670T>G | ||
NM_001069.2:c.475T>G | NP_001060.1:p.Tyr159Asp | |
NM_001310315.1:c.220T>G | NP_001297244.1:p.Tyr74Asp | |
NM_001069.3:c.475T>G MANE Select | NP_001060.1:p.Tyr159Asp | |
NM_001310315.2:c.220T>G | NP_001297244.1:p.Tyr74Asp |