HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154741T>C , CM000668.2:g.3154741T>C | GRCh38 |
NC_000006.11:g.3154975T>C , CM000668.1:g.3154975T>C | GRCh37 |
NC_000006.10:g.3099974T>C | NCBI36 |
NG_042223.1:g.7809A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.460A>G MANE Select | ENSP00000369703.2:p.Lys154Glu | |
ENST00000679400.1:n.516A>G | ||
ENST00000679907.1:n.848A>G | ||
ENST00000680036.1:n.1242A>G | ||
ENST00000680967.1:n.1550A>G | ||
ENST00000333628.3:c.460A>G | ENSP00000369703.2:p.Lys154Glu | |
ENST00000489942.1:n.655A>G | ||
NM_001069.2:c.460A>G | NP_001060.1:p.Lys154Glu | |
NM_001310315.1:c.205A>G | NP_001297244.1:p.Lys69Glu | |
NM_001069.3:c.460A>G MANE Select | NP_001060.1:p.Lys154Glu | |
NM_001310315.2:c.205A>G | NP_001297244.1:p.Lys69Glu |