Linked Data
ClinVar Variation Id:
1103141
ClinVar RCV Id:
RCV001426725
dbSNP Id:
rs1188936589
gnomAD v4:
11-86951262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951262G>A , CM000673.2:g.86951262G>A | GRCh38 |
| NC_000011.9:g.86662304G>A , CM000673.1:g.86662304G>A | GRCh37 |
| NC_000011.8:g.86339952G>A | NCBI36 |
| NG_011752.1:g.9130C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1494C>T (FZD4) MANE Select | ENSP00000434034.1:p.Ala498= | |
| ENST00000528769.5:n.319G>A (PRSS23) | ||
| ENST00000531380.1:c.1494C>T (FZD4) | ENSP00000434034.1:p.Ala498= | |
| ENST00000531521.1:n.433G>A (PRSS23) | ||
| ENST00000532234.5:c.*255G>A (PRSS23) | ENSP00000436676.1:n.*255G>A | |
| ENST00000533902.2:c.253G>A (PRSS23) | ENSP00000437268.1:p.Gly85Ser | |
| NM_012193.3:c.1494C>T (FZD4) | NP_036325.2:p.Ala498= | |
| NR_120591.1:n.927G>A (PRSS23) | ||
| NR_120592.1:n.676G>A (PRSS23) | ||
| NR_120591.2:n.625G>A (PRSS23) | ||
| NR_120592.2:n.374G>A (PRSS23) | ||
| NM_012193.4:c.1494C>T (FZD4) MANE Select | NP_036325.2:p.Ala498= | |
| NR_120591.3:n.625G>A (PRSS23) |