Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582452T>G , CM000673.2:g.47582452T>G | GRCh38 |
| NC_000011.9:g.47604004T>G , CM000673.1:g.47604004T>G | GRCh37 |
| NC_000011.8:g.47560580T>G | NCBI36 |
| NG_011946.1:g.8443T>G | |
| NG_011946.2:g.8443T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.611T>G MANE Select | ENSP00000263774.4:p.Leu204Arg | |
| ENST00000531351.2:n.1806T>G | ||
| ENST00000677462.1:n.3085T>G | ||
| ENST00000678975.1:n.2868T>G | ||
| ENST00000263774.8:c.611T>G | ENSP00000263774.4:p.Leu204Arg | |
| ENST00000524568.1:n.714T>G | ||
| ENST00000525212.1:n.266T>G | ||
| ENST00000525378.5:n.549T>G | ||
| ENST00000527178.1:n.211T>G | ||
| ENST00000533507.5:n.1505T>G | ||
| NM_004551.2:c.611T>G | NP_004542.1:p.Leu204Arg | |
| NM_004551.3:c.611T>G MANE Select | NP_004542.1:p.Leu204Arg |