Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582463G>C , CM000673.2:g.47582463G>C | GRCh38 |
| NC_000011.9:g.47604015G>C , CM000673.1:g.47604015G>C | GRCh37 |
| NC_000011.8:g.47560591G>C | NCBI36 |
| NG_011946.1:g.8454G>C | |
| NG_011946.2:g.8454G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.622G>C MANE Select | ENSP00000263774.4:p.Val208Leu | |
| ENST00000531351.2:n.1817G>C | ||
| ENST00000677462.1:n.3096G>C | ||
| ENST00000678975.1:n.2879G>C | ||
| ENST00000263774.8:c.622G>C | ENSP00000263774.4:p.Val208Leu | |
| ENST00000524568.1:n.725G>C | ||
| ENST00000525212.1:n.277G>C | ||
| ENST00000525378.5:n.560G>C | ||
| ENST00000527178.1:n.222G>C | ||
| ENST00000533507.5:n.1516G>C | ||
| NM_004551.2:c.622G>C | NP_004542.1:p.Val208Leu | |
| NM_004551.3:c.622G>C MANE Select | NP_004542.1:p.Val208Leu |