Linked Data
ClinVar Variation Id:
518381
dbSNP Id:
rs201550522
ExAC:
7:142460335 A / G
gnomAD v2:
7-142460335-A-G
gnomAD v3:
7-142752484-A-G
gnomAD v4:
7-142752484-A-G
COSMIC:
COSM42958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752484A>G , CM000669.2:g.142752484A>G | GRCh38 |
| NC_000007.13:g.142460335A>G , CM000669.1:g.142460335A>G | GRCh37 |
| NC_000007.12:g.142139909A>G | NCBI36 |
| NG_008307.3:g.8001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.508A>G (PRSS1) MANE Select | ENSP00000308720.7:p.Lys170Glu | |
| ENST00000311737.11:c.508A>G (PRSS1) | ENSP00000308720.7:p.Lys170Glu | |
| ENST00000463701.1:n.972A>G (PRSS1) | ||
| ENST00000486171.5:c.550A>G (PRSS1) | ENSP00000417854.1:p.Lys184Glu | |
| ENST00000492062.1:c.358A>G (PRSS1) | ENSP00000419912.1:p.Lys120Glu | |
| ENST00000610416.2:c.370+31298A>G (TRBC1) | ENSP00000482915.1:n.370+31298A>G | |
| ENST00000612126.4:c.508A>G (PRSS1) | ENSP00000479959.1:p.Lys170Glu | |
| ENST00000619214.4:c.478A>G (PRSS1) | ENSP00000481361.1:p.Lys160Glu | |
| ENST00000633114.1:c.321+590A>G (PRSS2) | ENSP00000487822.1:n.321+590A>G | |
| ENST00000634019.1:c.82+3693A>G (PRSS2) | ENSP00000488594.1:n.82+3693A>G | |
| NM_002769.4:c.508A>G (PRSS1) | NP_002760.1:p.Lys170Glu | |
| XM_011516411.1:c.1183A>G (PRSS1) | XP_011514713.1:p.Lys395Glu | |
| NM_002769.5:c.508A>G (PRSS1) MANE Select | NP_002760.1:p.Lys170Glu | |
| NR_172947.1:n.450A>G (PRSS1) | ||
| NR_172948.1:n.447A>G (PRSS1) | ||
| NR_172949.1:n.447A>G (PRSS1) | ||
| NR_172950.1:n.361A>G (PRSS1) | ||
| NR_172951.1:n.295A>G (PRSS1) |