Linked Data
ClinVar Variation Id:
306341
ClinVar RCV Id:
RCV000400330
dbSNP Id:
rs138561450
gnomAD v2:
11-86657988-T-C
gnomAD v3:
11-86946946-T-C
gnomAD v4:
11-86946946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86946946T>C , CM000673.2:g.86946946T>C | GRCh38 |
| NC_000011.9:g.86657988T>C , CM000673.1:g.86657988T>C | GRCh37 |
| NC_000011.8:g.86335636T>C | NCBI36 |
| NG_011752.1:g.13446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.*4196A>G (FZD4) MANE Select | ENSP00000434034.1:n.*4196A>G | |
| ENST00000528769.5:n.129-3410T>C (PRSS23) | ||
| ENST00000531380.1:c.*4196A>G (FZD4) | ENSP00000434034.1:n.*4196A>G | |
| ENST00000531521.1:n.243-3410T>C (PRSS23) | ||
| ENST00000532234.5:c.*65-3410T>C (PRSS23) | ENSP00000436676.1:n.*65-3410T>C | |
| ENST00000533902.2:c.207-4270T>C (PRSS23) | ENSP00000437268.1:n.207-4270T>C | |
| NM_012193.3:c.*4196A>G (FZD4) | NP_036325.2:n.*4196A>G | |
| NR_120591.1:n.737-3410T>C (PRSS23) | ||
| NR_120592.1:n.630-4270T>C (PRSS23) | ||
| NR_120591.2:n.435-3410T>C (PRSS23) | ||
| NR_120592.2:n.328-4270T>C (PRSS23) | ||
| NM_012193.4:c.*4196A>G (FZD4) MANE Select | NP_036325.2:n.*4196A>G | |
| NR_120591.3:n.435-3410T>C (PRSS23) |