COSMIC:
COSM3762443 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005787 (EAS)
Exomes Max Group AF
0.0000651 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752537C>T , CM000669.2:g.142752537C>T | GRCh38 |
| NC_000007.13:g.142460388C>T , CM000669.1:g.142460388C>T | GRCh37 |
| NC_000007.12:g.142139962C>T | NCBI36 |
| NG_008307.3:g.8054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.561C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Gly187= | |
| ENST00000311737.11:c.561C>T (PRSS1) | ENSP00000308720.7:p.Gly187= | |
| ENST00000463701.1:n.1025C>T (PRSS1) | ||
| ENST00000486171.5:c.603C>T (PRSS1) | ENSP00000417854.1:p.Gly201= | |
| ENST00000492062.1:c.411C>T (PRSS1) | ENSP00000419912.1:p.Gly137= | |
| ENST00000610416.2:c.370+31351C>T (TRBC1) | ENSP00000482915.1:n.370+31351C>T | |
| ENST00000612126.4:c.561C>T (PRSS1) | ENSP00000479959.1:p.Gly187= | |
| ENST00000619214.4:c.531C>T (PRSS1) | ENSP00000481361.1:p.Gly177= | |
| ENST00000633114.1:c.321+643C>T (PRSS2) | ENSP00000487822.1:n.321+643C>T | |
| ENST00000634019.1:c.82+3746C>T (PRSS2) | ENSP00000488594.1:n.82+3746C>T | |
| NM_002769.4:c.561C>T (PRSS1) | NP_002760.1:p.Gly187= | |
| XM_011516411.1:c.1236C>T (PRSS1) | XP_011514713.1:p.Gly412= | |
| NM_002769.5:c.561C>T (PRSS1) MANE Select | NP_002760.1:p.Gly187= | |
| NR_172947.1:n.503C>T (PRSS1) | ||
| NR_172948.1:n.500C>T (PRSS1) | ||
| NR_172949.1:n.500C>T (PRSS1) | ||
| NR_172950.1:n.414C>T (PRSS1) | ||
| NR_172951.1:n.348C>T (PRSS1) |