Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607981A>C , CM000684.2:g.26607981A>C | GRCh38 |
| NC_000022.10:g.27003945A>C , CM000684.1:g.27003945A>C | GRCh37 |
| NC_000022.9:g.25333945A>C | NCBI36 |
| NG_009826.1:g.15047T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.152T>G | ||
| ENST00000647684.1:c.340T>G MANE Select | ENSP00000497249.1:p.Phe114Val | |
| ENST00000215939.2:c.340T>G | ENSP00000215939.2:p.Phe114Val | |
| NM_001887.3:c.340T>G | NP_001878.1:p.Phe114Val | |
| XM_011529899.1:c.340T>G | XP_011528201.1:p.Phe114Val | |
| NM_001887.4:c.340T>G MANE Select | NP_001878.1:p.Phe114Val | |
| XM_011529899.3:c.340T>G | XP_011528201.1:p.Phe114Val |