HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154619T>A , CM000668.2:g.3154619T>A | GRCh38 |
NC_000006.11:g.3154853T>A , CM000668.1:g.3154853T>A | GRCh37 |
NC_000006.10:g.3099852T>A | NCBI36 |
NG_042223.1:g.7931A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.582A>T MANE Select | ENSP00000369703.2:p.Glu194Asp | |
ENST00000679400.1:n.638A>T | ||
ENST00000679907.1:n.970A>T | ||
ENST00000680036.1:n.1364A>T | ||
ENST00000680967.1:n.1672A>T | ||
ENST00000333628.3:c.582A>T | ENSP00000369703.2:p.Glu194Asp | |
ENST00000489942.1:n.777A>T | ||
NM_001069.2:c.582A>T | NP_001060.1:p.Glu194Asp | |
NM_001310315.1:c.327A>T | NP_001297244.1:p.Glu109Asp | |
NM_001069.3:c.582A>T MANE Select | NP_001060.1:p.Glu194Asp | |
NM_001310315.2:c.327A>T | NP_001297244.1:p.Glu109Asp |