COSMIC:
COSM5428056 (not active)
Revel Score:
ENST00000418967
0.354
ENST00000435122
0.354
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00302441 (EAS)
Genomes Max Group AF
0.0001618 (EAS)
Exomes Max Group AF
0.00334347 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040087C>A , CM000668.2:g.32040087C>A | GRCh38 |
| NC_000006.11:g.32007864C>A , CM000668.1:g.32007864C>A | GRCh37 |
| NC_000006.10:g.32115843C>A | NCBI36 |
| NG_007941.2:g.6780C>A | |
| NG_008337.2:g.74288G>T | |
| NG_007941.3:g.6783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.821C>A MANE Select | ENSP00000496625.1:p.Ser274Tyr | |
| ENST00000418967.6:c.821C>A | ENSP00000408860.2:p.Ser274Tyr | |
| ENST00000435122.3:c.731C>A | ENSP00000415043.2:p.Ser244Tyr | |
| ENST00000479074.5:n.879C>A | ||
| ENST00000479730.5:n.937C>A | ||
| ENST00000483041.5:n.990C>A | ||
| ENST00000486063.5:n.918+252C>A | ||
| NM_000500.7:c.821C>A | NP_000491.4:p.Ser274Tyr | |
| NM_001128590.3:c.731C>A | NP_001122062.3:p.Ser244Tyr | |
| XM_011514314.1:c.416C>A | XP_011512616.1:p.Ser139Tyr | |
| NM_000500.9:c.821C>A MANE Select | NP_000491.4:p.Ser274Tyr | |
| NM_001368143.1:c.416C>A | NP_001355072.1:p.Ser139Tyr | |
| NM_001368144.1:c.416C>A | NP_001355073.1:p.Ser139Tyr | |
| NM_001128590.4:c.731C>A | NP_001122062.3:p.Ser244Tyr | |
| NM_001368143.2:c.416C>A | NP_001355072.1:p.Ser139Tyr | |
| NM_001368144.2:c.416C>A | NP_001355073.1:p.Ser139Tyr |