Linked Data
ClinVar Variation Id:
1479251
ClinVar RCV Id:
RCV001976682
dbSNP Id:
rs757405807
ExAC:
11:86662452 G / A
gnomAD v2:
11-86662452-G-A
gnomAD v3:
11-86951410-G-A
gnomAD v4:
11-86951410-G-A
COSMIC:
COSM4685969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951410G>A , CM000673.2:g.86951410G>A | GRCh38 |
| NC_000011.9:g.86662452G>A , CM000673.1:g.86662452G>A | GRCh37 |
| NC_000011.8:g.86340100G>A | NCBI36 |
| NG_011752.1:g.8982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1346C>T (FZD4) MANE Select | ENSP00000434034.1:p.Thr449Met | |
| ENST00000531380.1:c.1346C>T (FZD4) | ENSP00000434034.1:p.Thr449Met | |
| ENST00000531521.1:n.581G>A (PRSS23) | ||
| ENST00000532234.5:c.*403G>A (PRSS23) | ENSP00000436676.1:n.*403G>A | |
| ENST00000533902.2:c.*125G>A (PRSS23) | ENSP00000437268.1:n.*125G>A | |
| NM_012193.3:c.1346C>T (FZD4) | NP_036325.2:p.Thr449Met | |
| NR_120591.1:n.1075G>A (PRSS23) | ||
| NR_120592.1:n.824G>A (PRSS23) | ||
| NR_120591.2:n.773G>A (PRSS23) | ||
| NR_120592.2:n.522G>A (PRSS23) | ||
| NM_012193.4:c.1346C>T (FZD4) MANE Select | NP_036325.2:p.Thr449Met | |
| NR_120591.3:n.773G>A (PRSS23) |