Revel Score:
ENST00000531380 (MANE Select)
0.505
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952443T>A , CM000673.2:g.86952443T>A | GRCh38 |
| NC_000011.9:g.86663485T>A , CM000673.1:g.86663485T>A | GRCh37 |
| NC_000011.8:g.86341133T>A | NCBI36 |
| NG_011752.1:g.7949A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.313A>T (FZD4) MANE Select | ENSP00000434034.1:p.Met105Leu | |
| ENST00000531380.1:c.313A>T (FZD4) | ENSP00000434034.1:p.Met105Leu | |
| ENST00000532234.5:c.*1436T>A (PRSS23) | ENSP00000436676.1:n.*1436T>A | |
| ENST00000533902.2:c.*1158T>A (PRSS23) | ENSP00000437268.1:n.*1158T>A | |
| NM_012193.3:c.313A>T (FZD4) | NP_036325.2:p.Met105Leu | |
| NR_120591.1:n.2108T>A (PRSS23) | ||
| NR_120592.1:n.1857T>A (PRSS23) | ||
| NR_120591.2:n.1806T>A (PRSS23) | ||
| NR_120592.2:n.1555T>A (PRSS23) | ||
| NM_012193.4:c.313A>T (FZD4) MANE Select | NP_036325.2:p.Met105Leu | |
| NR_120591.3:n.1806T>A (PRSS23) |