Linked Data
ClinVar Variation Id:
161986
ClinVar RCV Id:
RCV000149411
dbSNP Id:
rs199769221
ExAC:
7:142459771 G / C
gnomAD v2:
7-142459771-G-C
gnomAD v3:
7-142751920-G-C
gnomAD v4:
7-142751920-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751920G>C , CM000669.2:g.142751920G>C | GRCh38 |
| NC_000007.13:g.142459771G>C , CM000669.1:g.142459771G>C | GRCh37 |
| NC_000007.12:g.142139345G>C | NCBI36 |
| NG_008307.3:g.7437G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.347G>C (PRSS1) MANE Select | ENSP00000308720.7:p.Arg116Pro | |
| ENST00000311737.11:c.347G>C (PRSS1) | ENSP00000308720.7:p.Arg116Pro | |
| ENST00000463701.1:n.811G>C (PRSS1) | ||
| ENST00000485223.1:n.1345G>C (PRSS1) | ||
| ENST00000486171.5:c.389G>C (PRSS1) | ENSP00000417854.1:p.Arg130Pro | |
| ENST00000492062.1:c.197G>C (PRSS1) | ENSP00000419912.1:p.Arg66Pro | |
| ENST00000610416.2:c.370+30734G>C (TRBC1) | ENSP00000482915.1:n.370+30734G>C | |
| ENST00000612126.4:c.347G>C (PRSS1) | ENSP00000479959.1:p.Arg116Pro | |
| ENST00000619214.4:c.317G>C (PRSS1) | ENSP00000481361.1:p.Arg106Pro | |
| ENST00000633114.1:c.321+26G>C (PRSS2) | ENSP00000487822.1:n.321+26G>C | |
| ENST00000634019.1:c.82+3129G>C (PRSS2) | ENSP00000488594.1:n.82+3129G>C | |
| NM_002769.4:c.347G>C (PRSS1) | NP_002760.1:p.Arg116Pro | |
| XM_011516411.1:c.1022G>C (PRSS1) | XP_011514713.1:p.Arg341Pro | |
| NM_002769.5:c.347G>C (PRSS1) MANE Select | NP_002760.1:p.Arg116Pro | |
| NR_172947.1:n.289G>C (PRSS1) | ||
| NR_172948.1:n.286G>C (PRSS1) | ||
| NR_172949.1:n.286G>C (PRSS1) | ||
| NR_172950.1:n.200G>C (PRSS1) | ||
| NR_172951.1:n.140-6G>C (PRSS1) |