Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591615G>C , CM000677.2:g.80591615G>C | GRCh38 |
| NC_000015.9:g.80883956G>C , CM000677.1:g.80883956G>C | GRCh37 |
| NC_000015.8:g.78671011G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.1966G>C MANE Select | ENSP00000307479.4:p.Val656Leu | |
| ENST00000303329.8:c.1966G>C | ENSP00000307479.4:p.Val656Leu | |
| ENST00000527771.5:c.1933G>C | ENSP00000453792.1:p.Val645Leu | |
| ENST00000533983.5:c.1933G>C | ENSP00000453651.1:p.Val645Leu | |
| ENST00000610490.4:c.*264G>C | ENSP00000483762.1:n.*264G>C | |
| ENST00000622346.4:c.1966G>C | ENSP00000479393.1:p.Val656Leu | |
| NM_014862.3:c.1966G>C | NP_055677.3:p.Val656Leu | |
| NM_014862.4:c.1966G>C MANE Select | NP_055677.3:p.Val656Leu |