Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591697T>C , CM000677.2:g.80591697T>C | GRCh38 |
| NC_000015.9:g.80884038T>C , CM000677.1:g.80884038T>C | GRCh37 |
| NC_000015.8:g.78671093T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2048T>C MANE Select | ENSP00000307479.4:p.Val683Ala | |
| ENST00000303329.8:c.2048T>C | ENSP00000307479.4:p.Val683Ala | |
| ENST00000527771.5:c.2015T>C | ENSP00000453792.1:p.Val672Ala | |
| ENST00000533983.5:c.2015T>C | ENSP00000453651.1:p.Val672Ala | |
| ENST00000610490.4:c.*346T>C | ENSP00000483762.1:n.*346T>C | |
| ENST00000622346.4:c.2048T>C | ENSP00000479393.1:p.Val683Ala | |
| NM_014862.3:c.2048T>C | NP_055677.3:p.Val683Ala | |
| NM_014862.4:c.2048T>C MANE Select | NP_055677.3:p.Val683Ala |