Revel Score:
ENST00000531380 (MANE Select)
0.613
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059131 (NFE)
Genomes Max Group AF
0.00063779 (NFE)
Exomes Max Group AF
0.00057902 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951990T>C , CM000673.2:g.86951990T>C | GRCh38 |
| NC_000011.9:g.86663032T>C , CM000673.1:g.86663032T>C | GRCh37 |
| NC_000011.8:g.86340680T>C | NCBI36 |
| NG_011752.1:g.8402A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.766A>G (FZD4) MANE Select | ENSP00000434034.1:p.Ile256Val | |
| ENST00000531380.1:c.766A>G (FZD4) | ENSP00000434034.1:p.Ile256Val | |
| ENST00000532234.5:c.*983T>C (PRSS23) | ENSP00000436676.1:n.*983T>C | |
| ENST00000533902.2:c.*705T>C (PRSS23) | ENSP00000437268.1:n.*705T>C | |
| NM_012193.3:c.766A>G (FZD4) | NP_036325.2:p.Ile256Val | |
| NR_120591.1:n.1655T>C (PRSS23) | ||
| NR_120592.1:n.1404T>C (PRSS23) | ||
| NR_120591.2:n.1353T>C (PRSS23) | ||
| NR_120592.2:n.1102T>C (PRSS23) | ||
| NM_012193.4:c.766A>G (FZD4) MANE Select | NP_036325.2:p.Ile256Val | |
| NR_120591.3:n.1353T>C (PRSS23) |