Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583565A>C , CM000679.2:g.41583565A>C | GRCh38 |
| NC_000017.10:g.39739817A>C , CM000679.1:g.39739817A>C | GRCh37 |
| NC_000017.9:g.36993343A>C | NCBI36 |
| NG_008624.1:g.8331T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1039T>G MANE Select | ENSP00000167586.6:p.Ser347Ala | |
| ENST00000167586.6:c.1039T>G | ENSP00000167586.6:p.Ser347Ala | |
| ENST00000476662.1:n.489T>G | ||
| NM_000526.4:c.1039T>G | NP_000517.2:p.Ser347Ala | |
| NM_000526.5:c.1039T>G MANE Select | NP_000517.3:p.Ser347Ala |