Linked Data
ClinVar Variation Id:
306385
ClinVar RCV Id:
RCV000265049
dbSNP Id:
rs3802892
gnomAD v2:
11-86660886-G-A
gnomAD v3:
11-86949844-G-A
gnomAD v4:
11-86949844-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86949844G>A , CM000673.2:g.86949844G>A | GRCh38 |
| NC_000011.9:g.86660886G>A , CM000673.1:g.86660886G>A | GRCh37 |
| NC_000011.8:g.86338534G>A | NCBI36 |
| NG_011752.1:g.10548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.*1298C>T (FZD4) MANE Select | ENSP00000434034.1:n.*1298C>T | |
| ENST00000528769.5:n.129-512G>A (PRSS23) | ||
| ENST00000531380.1:c.*1298C>T (FZD4) | ENSP00000434034.1:n.*1298C>T | |
| ENST00000531521.1:n.243-512G>A (PRSS23) | ||
| ENST00000532234.5:c.*65-512G>A (PRSS23) | ENSP00000436676.1:n.*65-512G>A | |
| ENST00000533902.2:c.207-1372G>A (PRSS23) | ENSP00000437268.1:n.207-1372G>A | |
| NM_012193.3:c.*1298C>T (FZD4) | NP_036325.2:n.*1298C>T | |
| NR_120591.1:n.737-512G>A (PRSS23) | ||
| NR_120592.1:n.630-1372G>A (PRSS23) | ||
| NR_120591.2:n.435-512G>A (PRSS23) | ||
| NR_120592.2:n.328-1372G>A (PRSS23) | ||
| NM_012193.4:c.*1298C>T (FZD4) MANE Select | NP_036325.2:n.*1298C>T | |
| NR_120591.3:n.435-512G>A (PRSS23) |