Linked Data
ClinVar Variation Id:
11881
ClinVar RCV Id:
RCV000012656
dbSNP Id:
rs144422014
ExAC:
7:142458526 A / G
gnomAD v2:
7-142458526-A-G
gnomAD v3:
7-142750675-A-G
gnomAD v4:
7-142750675-A-G
PubMed:
PMID:15776435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750675A>G , CM000669.2:g.142750675A>G | GRCh38 |
| NC_000007.13:g.142458526A>G , CM000669.1:g.142458526A>G | GRCh37 |
| NC_000007.12:g.142138100A>G | NCBI36 |
| NG_008307.3:g.6192A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311737.12:c.161A>G (PRSS1) MANE Select | ENSP00000308720.7:p.Asn54Ser | |
| ENST00000311737.11:c.161A>G (PRSS1) | ENSP00000308720.7:p.Asn54Ser | |
| ENST00000485223.1:n.100A>G (PRSS1) | ||
| ENST00000486171.5:c.161A>G (PRSS1) | ENSP00000417854.1:p.Asn54Ser | |
| ENST00000492062.1:c.11A>G (PRSS1) | ENSP00000419912.1:p.Asn4Ser | |
| ENST00000497041.1:n.165A>G (PRSS1) | ||
| ENST00000610416.2:c.370+29489A>G (TRBC1) | ENSP00000482915.1:n.370+29489A>G | |
| ENST00000612126.4:c.161A>G (PRSS1) | ENSP00000479959.1:p.Asn54Ser | |
| ENST00000619214.4:c.161A>G (PRSS1) | ENSP00000481361.1:p.Asn54Ser | |
| ENST00000633114.1:c.161A>G (PRSS2) | ENSP00000487822.1:p.Asn54Ser | |
| ENST00000634019.1:c.82+1884A>G (PRSS2) | ENSP00000488594.1:n.82+1884A>G | |
| NM_002769.4:c.161A>G (PRSS1) | NP_002760.1:p.Asn54Ser | |
| XM_011516411.1:c.836A>G (PRSS1) | XP_011514713.1:p.Asn279Ser | |
| NM_002769.5:c.161A>G (PRSS1) MANE Select | NP_002760.1:p.Asn54Ser | |
| NR_172947.1:n.174A>G (PRSS1) | ||
| NR_172948.1:n.174A>G (PRSS1) | ||
| NR_172949.1:n.100A>G (PRSS1) | ||
| NR_172950.1:n.54-1099A>G (PRSS1) | ||
| NR_172951.1:n.100A>G (PRSS1) |