Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582349A>T , CM000673.2:g.47582349A>T | GRCh38 |
| NC_000011.9:g.47603901A>T , CM000673.1:g.47603901A>T | GRCh37 |
| NC_000011.8:g.47560477A>T | NCBI36 |
| NG_011946.1:g.8340A>T | |
| NG_011946.2:g.8340A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.508A>T MANE Select | ENSP00000263774.4:p.Ile170Phe | |
| ENST00000531351.2:n.1703A>T | ||
| ENST00000677462.1:n.2982A>T | ||
| ENST00000678975.1:n.2765A>T | ||
| ENST00000263774.8:c.508A>T | ENSP00000263774.4:p.Ile170Phe | |
| ENST00000524568.1:n.611A>T | ||
| ENST00000525212.1:n.163A>T | ||
| ENST00000525378.5:n.446A>T | ||
| ENST00000527178.1:n.108A>T | ||
| ENST00000533507.5:n.1402A>T | ||
| NM_004551.2:c.508A>T | NP_004542.1:p.Ile170Phe | |
| NM_004551.3:c.508A>T MANE Select | NP_004542.1:p.Ile170Phe |