HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154726A>G , CM000668.2:g.3154726A>G | GRCh38 |
NC_000006.11:g.3154960A>G , CM000668.1:g.3154960A>G | GRCh37 |
NC_000006.10:g.3099959A>G | NCBI36 |
NG_042223.1:g.7824T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.475T>C MANE Select | ENSP00000369703.2:p.Tyr159His | |
ENST00000679400.1:n.531T>C | ||
ENST00000679907.1:n.863T>C | ||
ENST00000680036.1:n.1257T>C | ||
ENST00000680967.1:n.1565T>C | ||
ENST00000333628.3:c.475T>C | ENSP00000369703.2:p.Tyr159His | |
ENST00000489942.1:n.670T>C | ||
NM_001069.2:c.475T>C | NP_001060.1:p.Tyr159His | |
NM_001310315.1:c.220T>C | NP_001297244.1:p.Tyr74His | |
NM_001069.3:c.475T>C MANE Select | NP_001060.1:p.Tyr159His | |
NM_001310315.2:c.220T>C | NP_001297244.1:p.Tyr74His |