Linked Data
ClinVar Variation Id:
5487
ClinVar RCV Id:
RCV003555930
dbSNP Id:
rs80358293
gnomAD v3:
11-86951732-T-C
gnomAD v4:
11-86951732-T-C
PubMed:
PMID:15488808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951732T>C , CM000673.2:g.86951732T>C | GRCh38 |
| NC_000011.9:g.86662774T>C , CM000673.1:g.86662774T>C | GRCh37 |
| NC_000011.8:g.86340422T>C | NCBI36 |
| NG_011752.1:g.8660A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1024A>G (FZD4) MANE Select | ENSP00000434034.1:p.Met342Val | |
| ENST00000531380.1:c.1024A>G (FZD4) | ENSP00000434034.1:p.Met342Val | |
| ENST00000531521.1:n.903T>C (PRSS23) | ||
| ENST00000532234.5:c.*725T>C (PRSS23) | ENSP00000436676.1:n.*725T>C | |
| ENST00000533902.2:c.*447T>C (PRSS23) | ENSP00000437268.1:n.*447T>C | |
| NM_012193.3:c.1024A>G (FZD4) | NP_036325.2:p.Met342Val | |
| NR_120591.1:n.1397T>C (PRSS23) | ||
| NR_120592.1:n.1146T>C (PRSS23) | ||
| NR_120591.2:n.1095T>C (PRSS23) | ||
| NR_120592.2:n.844T>C (PRSS23) | ||
| NM_012193.4:c.1024A>G (FZD4) MANE Select | NP_036325.2:p.Met342Val | |
| NR_120591.3:n.1095T>C (PRSS23) |