Linked Data
ClinVar Variation Id:
38366
ClinVar RCV Id:
RCV000031923
dbSNP Id:
rs111033566
gnomAD v3:
7-142750600-A-C
gnomAD v4:
7-142750600-A-C
PubMed:
PMID:22379635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750600A>C , CM000669.2:g.142750600A>C | GRCh38 |
| NC_000007.13:g.142458451A>C , CM000669.1:g.142458451A>C | GRCh37 |
| NC_000007.12:g.142138025A>C | NCBI36 |
| NG_008307.3:g.6117A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.86A>C (PRSS1) MANE Select | ENSP00000308720.7:p.Asn29Thr | |
| ENST00000311737.11:c.86A>C (PRSS1) | ENSP00000308720.7:p.Asn29Thr | |
| ENST00000485223.1:n.54-29A>C (PRSS1) | ||
| ENST00000486171.5:c.86A>C (PRSS1) | ENSP00000417854.1:p.Asn29Thr | |
| ENST00000497041.1:n.90A>C (PRSS1) | ||
| ENST00000610416.2:c.370+29414A>C (TRBC1) | ENSP00000482915.1:n.370+29414A>C | |
| ENST00000612126.4:c.86A>C (PRSS1) | ENSP00000479959.1:p.Asn29Thr | |
| ENST00000619214.4:c.86A>C (PRSS1) | ENSP00000481361.1:p.Asn29Thr | |
| ENST00000633114.1:c.86A>C (PRSS2) | ENSP00000487822.1:p.Asn29Thr | |
| ENST00000634019.1:c.82+1809A>C (PRSS2) | ENSP00000488594.1:n.82+1809A>C | |
| NM_002769.4:c.86A>C (PRSS1) | NP_002760.1:p.Asn29Thr | |
| XM_011516411.1:c.761A>C (PRSS1) | XP_011514713.1:p.Asn254Thr | |
| NM_002769.5:c.86A>C (PRSS1) MANE Select | NP_002760.1:p.Asn29Thr | |
| NR_172947.1:n.99A>C (PRSS1) | ||
| NR_172948.1:n.99A>C (PRSS1) | ||
| NR_172949.1:n.54-29A>C (PRSS1) | ||
| NR_172950.1:n.53+1076A>C (PRSS1) | ||
| NR_172951.1:n.54-29A>C (PRSS1) |