Linked Data
ClinVar Variation Id:
1787235
ClinVar RCV Id:
RCV002432868
dbSNP Id:
rs1248279792
gnomAD v3:
7-142751790-C-A
gnomAD v4:
7-142751790-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751790C>A , CM000669.2:g.142751790C>A | GRCh38 |
| NC_000007.13:g.142459641C>A , CM000669.1:g.142459641C>A | GRCh37 |
| NC_000007.12:g.142139215C>A | NCBI36 |
| NG_008307.3:g.7307C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.217C>A (PRSS1) MANE Select | ENSP00000308720.7:p.Leu73Met | |
| ENST00000311737.11:c.217C>A (PRSS1) | ENSP00000308720.7:p.Leu73Met | |
| ENST00000463701.1:n.681C>A (PRSS1) | ||
| ENST00000485223.1:n.1215C>A (PRSS1) | ||
| ENST00000486171.5:c.259C>A (PRSS1) | ENSP00000417854.1:p.Leu87Met | |
| ENST00000492062.1:c.67C>A (PRSS1) | ENSP00000419912.1:p.Leu23Met | |
| ENST00000610416.2:c.370+30604C>A (TRBC1) | ENSP00000482915.1:n.370+30604C>A | |
| ENST00000612126.4:c.217C>A (PRSS1) | ENSP00000479959.1:p.Leu73Met | |
| ENST00000619214.4:c.217C>A (PRSS1) | ENSP00000481361.1:p.Leu73Met | |
| ENST00000633114.1:c.217C>A (PRSS2) | ENSP00000487822.1:p.Leu73Met | |
| ENST00000634019.1:c.82+2999C>A (PRSS2) | ENSP00000488594.1:n.82+2999C>A | |
| NM_002769.4:c.217C>A (PRSS1) | NP_002760.1:p.Leu73Met | |
| XM_011516411.1:c.892C>A (PRSS1) | XP_011514713.1:p.Leu298Met | |
| NM_002769.5:c.217C>A (PRSS1) MANE Select | NP_002760.1:p.Leu73Met | |
| NR_172947.1:n.198-39C>A (PRSS1) | ||
| NR_172948.1:n.198-42C>A (PRSS1) | ||
| NR_172949.1:n.156C>A (PRSS1) | ||
| NR_172950.1:n.70C>A (PRSS1) | ||
| NR_172951.1:n.140-136C>A (PRSS1) |