Linked Data
dbSNP Id:
rs1347007103
gnomAD v2:
11-86663131-T-C
gnomAD v4:
11-86952089-T-C
COSMIC:
COSM5434044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952089T>C , CM000673.2:g.86952089T>C | GRCh38 |
| NC_000011.9:g.86663131T>C , CM000673.1:g.86663131T>C | GRCh37 |
| NC_000011.8:g.86340779T>C | NCBI36 |
| NG_011752.1:g.8303A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.667A>G (FZD4) MANE Select | ENSP00000434034.1:p.Met223Val | |
| ENST00000531380.1:c.667A>G (FZD4) | ENSP00000434034.1:p.Met223Val | |
| ENST00000532234.5:c.*1082T>C (PRSS23) | ENSP00000436676.1:n.*1082T>C | |
| ENST00000533902.2:c.*804T>C (PRSS23) | ENSP00000437268.1:n.*804T>C | |
| NM_012193.3:c.667A>G (FZD4) | NP_036325.2:p.Met223Val | |
| NR_120591.1:n.1754T>C (PRSS23) | ||
| NR_120592.1:n.1503T>C (PRSS23) | ||
| NR_120591.2:n.1452T>C (PRSS23) | ||
| NR_120592.2:n.1201T>C (PRSS23) | ||
| NM_012193.4:c.667A>G (FZD4) MANE Select | NP_036325.2:p.Met223Val | |
| NR_120591.3:n.1452T>C (PRSS23) |