Linked Data
ClinVar Variation Id:
941087
ClinVar RCV Id:
RCV001210801
dbSNP Id:
rs184709254
ExAC:
11:86663418 C / T
gnomAD v2:
11-86663418-C-T
gnomAD v3:
11-86952376-C-T
gnomAD v4:
11-86952376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952376C>T , CM000673.2:g.86952376C>T | GRCh38 |
| NC_000011.9:g.86663418C>T , CM000673.1:g.86663418C>T | GRCh37 |
| NC_000011.8:g.86341066C>T | NCBI36 |
| NG_011752.1:g.8016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.380G>A (FZD4) MANE Select | ENSP00000434034.1:p.Arg127His | |
| ENST00000531380.1:c.380G>A (FZD4) | ENSP00000434034.1:p.Arg127His | |
| ENST00000532234.5:c.*1369C>T (PRSS23) | ENSP00000436676.1:n.*1369C>T | |
| ENST00000533902.2:c.*1091C>T (PRSS23) | ENSP00000437268.1:n.*1091C>T | |
| NM_012193.3:c.380G>A (FZD4) | NP_036325.2:p.Arg127His | |
| NR_120591.1:n.2041C>T (PRSS23) | ||
| NR_120592.1:n.1790C>T (PRSS23) | ||
| NR_120591.2:n.1739C>T (PRSS23) | ||
| NR_120592.2:n.1488C>T (PRSS23) | ||
| NM_012193.4:c.380G>A (FZD4) MANE Select | NP_036325.2:p.Arg127His | |
| NR_120591.3:n.1739C>T (PRSS23) |