Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582361T>C , CM000673.2:g.47582361T>C | GRCh38 |
| NC_000011.9:g.47603913T>C , CM000673.1:g.47603913T>C | GRCh37 |
| NC_000011.8:g.47560489T>C | NCBI36 |
| NG_011946.1:g.8352T>C | |
| NG_011946.2:g.8352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.520T>C MANE Select | ENSP00000263774.4:p.Phe174Leu | |
| ENST00000531351.2:n.1715T>C | ||
| ENST00000677462.1:n.2994T>C | ||
| ENST00000678975.1:n.2777T>C | ||
| ENST00000263774.8:c.520T>C | ENSP00000263774.4:p.Phe174Leu | |
| ENST00000524568.1:n.623T>C | ||
| ENST00000525212.1:n.175T>C | ||
| ENST00000525378.5:n.458T>C | ||
| ENST00000527178.1:n.120T>C | ||
| ENST00000533507.5:n.1414T>C | ||
| NM_004551.2:c.520T>C | NP_004542.1:p.Phe174Leu | |
| NM_004551.3:c.520T>C MANE Select | NP_004542.1:p.Phe174Leu |