Linked Data
ClinVar Variation Id:
306335
ClinVar RCV Id:
RCV000388699
dbSNP Id:
rs713065
gnomAD v2:
11-86657520-A-G
gnomAD v3:
11-86946478-A-G
gnomAD v4:
11-86946478-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86946478A>G , CM000673.2:g.86946478A>G | GRCh38 |
| NC_000011.9:g.86657520A>G , CM000673.1:g.86657520A>G | GRCh37 |
| NC_000011.8:g.86335168A>G | NCBI36 |
| NG_011752.1:g.13914T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.*4664T>C (FZD4) MANE Select | ENSP00000434034.1:n.*4664T>C | |
| ENST00000528769.5:n.129-3878A>G (PRSS23) | ||
| ENST00000531380.1:c.*4664T>C (FZD4) | ENSP00000434034.1:n.*4664T>C | |
| ENST00000531521.1:n.243-3878A>G (PRSS23) | ||
| ENST00000532234.5:c.*65-3878A>G (PRSS23) | ENSP00000436676.1:n.*65-3878A>G | |
| ENST00000533902.2:c.207-4738A>G (PRSS23) | ENSP00000437268.1:n.207-4738A>G | |
| NM_012193.3:c.*4664T>C (FZD4) | NP_036325.2:n.*4664T>C | |
| NR_120591.1:n.737-3878A>G (PRSS23) | ||
| NR_120592.1:n.630-4738A>G (PRSS23) | ||
| NR_120591.2:n.435-3878A>G (PRSS23) | ||
| NR_120592.2:n.328-4738A>G (PRSS23) | ||
| NM_012193.4:c.*4664T>C (FZD4) MANE Select | NP_036325.2:n.*4664T>C | |
| NR_120591.3:n.435-3878A>G (PRSS23) |