Linked Data
ClinVar Variation Id:
1109985
dbSNP Id:
rs192151920
ExAC:
11:86662292 G / A
gnomAD v2:
11-86662292-G-A
gnomAD v3:
11-86951250-G-A
gnomAD v4:
11-86951250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951250G>A , CM000673.2:g.86951250G>A | GRCh38 |
| NC_000011.9:g.86662292G>A , CM000673.1:g.86662292G>A | GRCh37 |
| NC_000011.8:g.86339940G>A | NCBI36 |
| NG_011752.1:g.9142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.1506C>T (FZD4) MANE Select | ENSP00000434034.1:p.His502= | |
| ENST00000528769.5:n.307G>A (PRSS23) | ||
| ENST00000531380.1:c.1506C>T (FZD4) | ENSP00000434034.1:p.His502= | |
| ENST00000531521.1:n.421G>A (PRSS23) | ||
| ENST00000532234.5:c.*243G>A (PRSS23) | ENSP00000436676.1:n.*243G>A | |
| ENST00000533902.2:c.241G>A (PRSS23) | ENSP00000437268.1:p.Val81Met | |
| NM_012193.3:c.1506C>T (FZD4) | NP_036325.2:p.His502= | |
| NR_120591.1:n.915G>A (PRSS23) | ||
| NR_120592.1:n.664G>A (PRSS23) | ||
| NR_120591.2:n.613G>A (PRSS23) | ||
| NR_120592.2:n.362G>A (PRSS23) | ||
| NM_012193.4:c.1506C>T (FZD4) MANE Select | NP_036325.2:p.His502= | |
| NR_120591.3:n.613G>A (PRSS23) |