Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582468G>T , CM000673.2:g.47582468G>T | GRCh38 |
| NC_000011.9:g.47604020G>T , CM000673.1:g.47604020G>T | GRCh37 |
| NC_000011.8:g.47560596G>T | NCBI36 |
| NG_011946.1:g.8459G>T | |
| NG_011946.2:g.8459G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.627G>T MANE Select | ENSP00000263774.4:p.Glu209Asp | |
| ENST00000531351.2:n.1822G>T | ||
| ENST00000677462.1:n.3101G>T | ||
| ENST00000678975.1:n.2884G>T | ||
| ENST00000263774.8:c.627G>T | ENSP00000263774.4:p.Glu209Asp | |
| ENST00000524568.1:n.730G>T | ||
| ENST00000525212.1:n.282G>T | ||
| ENST00000525378.5:n.565G>T | ||
| ENST00000527178.1:n.227G>T | ||
| ENST00000533507.5:n.1521G>T | ||
| NM_004551.2:c.627G>T | NP_004542.1:p.Glu209Asp | |
| NM_004551.3:c.627G>T MANE Select | NP_004542.1:p.Glu209Asp |