Linked Data
ClinVar Variation Id:
836237
ClinVar RCV Id:
RCV001037314
dbSNP Id:
rs757111793
ExAC:
7:142459627 G / A
gnomAD v2:
7-142459627-G-A
gnomAD v3:
7-142751776-G-A
gnomAD v4:
7-142751776-G-A
COSMIC:
COSM4956000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751776G>A , CM000669.2:g.142751776G>A | GRCh38 |
| NC_000007.13:g.142459627G>A , CM000669.1:g.142459627G>A | GRCh37 |
| NC_000007.12:g.142139201G>A | NCBI36 |
| NG_008307.3:g.7293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.203G>A (PRSS1) MANE Select | ENSP00000308720.7:p.Arg68His | |
| ENST00000311737.11:c.203G>A (PRSS1) | ENSP00000308720.7:p.Arg68His | |
| ENST00000463701.1:n.667G>A (PRSS1) | ||
| ENST00000485223.1:n.1201G>A (PRSS1) | ||
| ENST00000486171.5:c.245G>A (PRSS1) | ENSP00000417854.1:p.Arg82His | |
| ENST00000492062.1:c.53G>A (PRSS1) | ENSP00000419912.1:p.Arg18His | |
| ENST00000610416.2:c.370+30590G>A (TRBC1) | ENSP00000482915.1:n.370+30590G>A | |
| ENST00000612126.4:c.203G>A (PRSS1) | ENSP00000479959.1:p.Arg68His | |
| ENST00000619214.4:c.203G>A (PRSS1) | ENSP00000481361.1:p.Arg68His | |
| ENST00000633114.1:c.203G>A (PRSS2) | ENSP00000487822.1:p.Arg68His | |
| ENST00000634019.1:c.82+2985G>A (PRSS2) | ENSP00000488594.1:n.82+2985G>A | |
| NM_002769.4:c.203G>A (PRSS1) | NP_002760.1:p.Arg68His | |
| XM_011516411.1:c.878G>A (PRSS1) | XP_011514713.1:p.Arg293His | |
| NM_002769.5:c.203G>A (PRSS1) MANE Select | NP_002760.1:p.Arg68His | |
| NR_172947.1:n.198-53G>A (PRSS1) | ||
| NR_172948.1:n.198-56G>A (PRSS1) | ||
| NR_172949.1:n.142G>A (PRSS1) | ||
| NR_172950.1:n.56G>A (PRSS1) | ||
| NR_172951.1:n.140-150G>A (PRSS1) |