Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582356A>T , CM000673.2:g.47582356A>T | GRCh38 |
| NC_000011.9:g.47603908A>T , CM000673.1:g.47603908A>T | GRCh37 |
| NC_000011.8:g.47560484A>T | NCBI36 |
| NG_011946.1:g.8347A>T | |
| NG_011946.2:g.8347A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.515A>T MANE Select | ENSP00000263774.4:p.Asp172Val | |
| ENST00000531351.2:n.1710A>T | ||
| ENST00000677462.1:n.2989A>T | ||
| ENST00000678975.1:n.2772A>T | ||
| ENST00000263774.8:c.515A>T | ENSP00000263774.4:p.Asp172Val | |
| ENST00000524568.1:n.618A>T | ||
| ENST00000525212.1:n.170A>T | ||
| ENST00000525378.5:n.453A>T | ||
| ENST00000527178.1:n.115A>T | ||
| ENST00000533507.5:n.1409A>T | ||
| NM_004551.2:c.515A>T | NP_004542.1:p.Asp172Val | |
| NM_004551.3:c.515A>T MANE Select | NP_004542.1:p.Asp172Val |