Linked Data
ClinVar Variation Id:
5488
ClinVar RCV Id:
RCV000005823
dbSNP Id:
rs80358292
PubMed:
PMID:15981244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951751C>G , CM000673.2:g.86951751C>G | GRCh38 |
| NC_000011.9:g.86662793C>G , CM000673.1:g.86662793C>G | GRCh37 |
| NC_000011.8:g.86340441C>G | NCBI36 |
| NG_011752.1:g.8641G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1005G>C (FZD4) MANE Select | ENSP00000434034.1:p.Trp335Cys | |
| ENST00000531380.1:c.1005G>C (FZD4) | ENSP00000434034.1:p.Trp335Cys | |
| ENST00000532234.5:c.*744C>G (PRSS23) | ENSP00000436676.1:n.*744C>G | |
| ENST00000533902.2:c.*466C>G (PRSS23) | ENSP00000437268.1:n.*466C>G | |
| NM_012193.3:c.1005G>C (FZD4) | NP_036325.2:p.Trp335Cys | |
| NR_120591.1:n.1416C>G (PRSS23) | ||
| NR_120592.1:n.1165C>G (PRSS23) | ||
| NR_120591.2:n.1114C>G (PRSS23) | ||
| NR_120592.2:n.863C>G (PRSS23) | ||
| NM_012193.4:c.1005G>C (FZD4) MANE Select | NP_036325.2:p.Trp335Cys | |
| NR_120591.3:n.1114C>G (PRSS23) |