ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Revel Score:
ENST00000533902
0.476
ENST00000531380 (MANE Select)
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951266G>C , CM000673.2:g.86951266G>C | GRCh38 |
| NC_000011.9:g.86662308G>C , CM000673.1:g.86662308G>C | GRCh37 |
| NC_000011.8:g.86339956G>C | NCBI36 |
| NG_011752.1:g.9126C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1490C>G (FZD4) MANE Select | ENSP00000434034.1:p.Ser497Cys | |
| ENST00000528769.5:n.323G>C (PRSS23) | ||
| ENST00000531380.1:c.1490C>G (FZD4) | ENSP00000434034.1:p.Ser497Cys | |
| ENST00000531521.1:n.437G>C (PRSS23) | ||
| ENST00000532234.5:c.*259G>C (PRSS23) | ENSP00000436676.1:n.*259G>C | |
| ENST00000533902.2:c.257G>C (PRSS23) | ENSP00000437268.1:p.Arg86Thr | |
| NM_012193.3:c.1490C>G (FZD4) | NP_036325.2:p.Ser497Cys | |
| NR_120591.1:n.931G>C (PRSS23) | ||
| NR_120592.1:n.680G>C (PRSS23) | ||
| NR_120591.2:n.629G>C (PRSS23) | ||
| NR_120592.2:n.378G>C (PRSS23) | ||
| NM_012193.4:c.1490C>G (FZD4) MANE Select | NP_036325.2:p.Ser497Cys | |
| NR_120591.3:n.629G>C (PRSS23) |