Linked Data
ClinVar Variation Id:
2758634
ClinVar RCV Id:
RCV003569797
dbSNP Id:
rs1467417843
gnomAD v2:
11-86662299-G-C
gnomAD v4:
11-86951257-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951257G>C , CM000673.2:g.86951257G>C | GRCh38 |
| NC_000011.9:g.86662299G>C , CM000673.1:g.86662299G>C | GRCh37 |
| NC_000011.8:g.86339947G>C | NCBI36 |
| NG_011752.1:g.9135C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1499C>G (FZD4) MANE Select | ENSP00000434034.1:p.Thr500Ser | |
| ENST00000528769.5:n.314G>C (PRSS23) | ||
| ENST00000531380.1:c.1499C>G (FZD4) | ENSP00000434034.1:p.Thr500Ser | |
| ENST00000531521.1:n.428G>C (PRSS23) | ||
| ENST00000532234.5:c.*250G>C (PRSS23) | ENSP00000436676.1:n.*250G>C | |
| ENST00000533902.2:c.248G>C (PRSS23) | ENSP00000437268.1:p.Ser83Thr | |
| NM_012193.3:c.1499C>G (FZD4) | NP_036325.2:p.Thr500Ser | |
| NR_120591.1:n.922G>C (PRSS23) | ||
| NR_120592.1:n.671G>C (PRSS23) | ||
| NR_120591.2:n.620G>C (PRSS23) | ||
| NR_120592.2:n.369G>C (PRSS23) | ||
| NM_012193.4:c.1499C>G (FZD4) MANE Select | NP_036325.2:p.Thr500Ser | |
| NR_120591.3:n.620G>C (PRSS23) |