Linked Data
ClinVar Variation Id:
1406941
ClinVar RCV Id:
RCV001937676
dbSNP Id:
rs1271212127
gnomAD v2:
11-86663167-A-G
gnomAD v4:
11-86952125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952125A>G , CM000673.2:g.86952125A>G | GRCh38 |
| NC_000011.9:g.86663167A>G , CM000673.1:g.86663167A>G | GRCh37 |
| NC_000011.8:g.86340815A>G | NCBI36 |
| NG_011752.1:g.8267T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.631T>C (FZD4) MANE Select | ENSP00000434034.1:p.Tyr211His | |
| ENST00000531380.1:c.631T>C (FZD4) | ENSP00000434034.1:p.Tyr211His | |
| ENST00000532234.5:c.*1118A>G (PRSS23) | ENSP00000436676.1:n.*1118A>G | |
| ENST00000533902.2:c.*840A>G (PRSS23) | ENSP00000437268.1:n.*840A>G | |
| NM_012193.3:c.631T>C (FZD4) | NP_036325.2:p.Tyr211His | |
| NR_120591.1:n.1790A>G (PRSS23) | ||
| NR_120592.1:n.1539A>G (PRSS23) | ||
| NR_120591.2:n.1488A>G (PRSS23) | ||
| NR_120592.2:n.1237A>G (PRSS23) | ||
| NM_012193.4:c.631T>C (FZD4) MANE Select | NP_036325.2:p.Tyr211His | |
| NR_120591.3:n.1488A>G (PRSS23) |