Linked Data
ClinVar Variation Id:
2062822
ClinVar RCV Id:
RCV002958033
dbSNP Id:
rs148970041
gnomAD v2:
11-86662968-C-T
gnomAD v4:
11-86951926-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951926C>T , CM000673.2:g.86951926C>T | GRCh38 |
| NC_000011.9:g.86662968C>T , CM000673.1:g.86662968C>T | GRCh37 |
| NC_000011.8:g.86340616C>T | NCBI36 |
| NG_011752.1:g.8466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.830G>A (FZD4) MANE Select | ENSP00000434034.1:p.Arg277Gln | |
| ENST00000531380.1:c.830G>A (FZD4) | ENSP00000434034.1:p.Arg277Gln | |
| ENST00000532234.5:c.*919C>T (PRSS23) | ENSP00000436676.1:n.*919C>T | |
| ENST00000533902.2:c.*641C>T (PRSS23) | ENSP00000437268.1:n.*641C>T | |
| NM_012193.3:c.830G>A (FZD4) | NP_036325.2:p.Arg277Gln | |
| NR_120591.1:n.1591C>T (PRSS23) | ||
| NR_120592.1:n.1340C>T (PRSS23) | ||
| NR_120591.2:n.1289C>T (PRSS23) | ||
| NR_120592.2:n.1038C>T (PRSS23) | ||
| NM_012193.4:c.830G>A (FZD4) MANE Select | NP_036325.2:p.Arg277Gln | |
| NR_120591.3:n.1289C>T (PRSS23) |