Linked Data
dbSNP Id:
rs772349259
ExAC:
11:86662188 A / T
gnomAD v2:
11-86662188-A-T
gnomAD v3:
11-86951146-A-T
gnomAD v4:
11-86951146-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951146A>T , CM000673.2:g.86951146A>T | GRCh38 |
| NC_000011.9:g.86662188A>T , CM000673.1:g.86662188A>T | GRCh37 |
| NC_000011.8:g.86339836A>T | NCBI36 |
| NG_011752.1:g.9246T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1610T>A (FZD4) MANE Select | ENSP00000434034.1:p.Val537Glu | |
| ENST00000528769.5:n.273-70A>T (PRSS23) | ||
| ENST00000531380.1:c.1610T>A (FZD4) | ENSP00000434034.1:p.Val537Glu | |
| ENST00000531521.1:n.387-70A>T (PRSS23) | ||
| ENST00000532234.5:c.*209-70A>T (PRSS23) | ENSP00000436676.1:n.*209-70A>T | |
| ENST00000533902.2:c.207-70A>T (PRSS23) | ENSP00000437268.1:n.207-70A>T | |
| NM_012193.3:c.1610T>A (FZD4) | NP_036325.2:p.Val537Glu | |
| NR_120591.1:n.881-70A>T (PRSS23) | ||
| NR_120592.1:n.630-70A>T (PRSS23) | ||
| NR_120591.2:n.579-70A>T (PRSS23) | ||
| NR_120592.2:n.328-70A>T (PRSS23) | ||
| NM_012193.4:c.1610T>A (FZD4) MANE Select | NP_036325.2:p.Val537Glu | |
| NR_120591.3:n.579-70A>T (PRSS23) |