COSMIC:
COSM4827612 (not active)
Revel Score:
ENST00000418967
0.448
ENST00000435122
0.448
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00801874 (NFE)
Genomes Max Group AF
0.00840385 (NFE)
Exomes Max Group AF
0.00794274 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041006C>T , CM000668.2:g.32041006C>T | GRCh38 |
| NC_000006.11:g.32008783C>T , CM000668.1:g.32008783C>T | GRCh37 |
| NC_000006.10:g.32116762C>T | NCBI36 |
| NG_007941.2:g.7699C>T | |
| NG_008337.2:g.73369G>A | |
| NG_007941.3:g.7702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1360C>T MANE Select | ENSP00000496625.1:p.Pro454Ser | |
| ENST00000418967.6:c.1360C>T | ENSP00000408860.2:p.Pro454Ser | |
| ENST00000435122.3:c.1270C>T | ENSP00000415043.2:p.Pro424Ser | |
| ENST00000479074.5:n.1501C>T | ||
| ENST00000479730.5:n.1476C>T | ||
| ENST00000483041.5:n.1529C>T | ||
| ENST00000486063.5:n.1339C>T | ||
| NM_000500.7:c.1360C>T | NP_000491.4:p.Pro454Ser | |
| NM_001128590.3:c.1270C>T | NP_001122062.3:p.Pro424Ser | |
| XM_011514314.1:c.955C>T | XP_011512616.1:p.Pro319Ser | |
| NM_000500.9:c.1360C>T MANE Select | NP_000491.4:p.Pro454Ser | |
| NM_001368143.1:c.955C>T | NP_001355072.1:p.Pro319Ser | |
| NM_001368144.1:c.955C>T | NP_001355073.1:p.Pro319Ser | |
| NM_001128590.4:c.1270C>T | NP_001122062.3:p.Pro424Ser | |
| NM_001368143.2:c.955C>T | NP_001355072.1:p.Pro319Ser | |
| NM_001368144.2:c.955C>T | NP_001355073.1:p.Pro319Ser |