Linked Data
ClinVar Variation Id:
2642257
ClinVar RCV Id:
RCV003395989
dbSNP Id:
rs1949288463
gnomAD v4:
11-86951251-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951251T>C , CM000673.2:g.86951251T>C | GRCh38 |
| NC_000011.9:g.86662293T>C , CM000673.1:g.86662293T>C | GRCh37 |
| NC_000011.8:g.86339941T>C | NCBI36 |
| NG_011752.1:g.9141A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1505A>G (FZD4) MANE Select | ENSP00000434034.1:p.His502Arg | |
| ENST00000528769.5:n.308T>C (PRSS23) | ||
| ENST00000531380.1:c.1505A>G (FZD4) | ENSP00000434034.1:p.His502Arg | |
| ENST00000531521.1:n.422T>C (PRSS23) | ||
| ENST00000532234.5:c.*244T>C (PRSS23) | ENSP00000436676.1:n.*244T>C | |
| ENST00000533902.2:c.242T>C (PRSS23) | ENSP00000437268.1:p.Val81Ala | |
| NM_012193.3:c.1505A>G (FZD4) | NP_036325.2:p.His502Arg | |
| NR_120591.1:n.916T>C (PRSS23) | ||
| NR_120592.1:n.665T>C (PRSS23) | ||
| NR_120591.2:n.614T>C (PRSS23) | ||
| NR_120592.2:n.363T>C (PRSS23) | ||
| NM_012193.4:c.1505A>G (FZD4) MANE Select | NP_036325.2:p.His502Arg | |
| NR_120591.3:n.614T>C (PRSS23) |