Linked Data
ClinVar Variation Id:
459182
ClinVar RCV Id:
RCV000539474
dbSNP Id:
rs1431688642
gnomAD v3:
7-142751780-C-G
gnomAD v4:
7-142751780-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751780C>G , CM000669.2:g.142751780C>G | GRCh38 |
| NC_000007.13:g.142459631C>G , CM000669.1:g.142459631C>G | GRCh37 |
| NC_000007.12:g.142139205C>G | NCBI36 |
| NG_008307.3:g.7297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.207C>G (PRSS1) MANE Select | ENSP00000308720.7:p.Ile69Met | |
| ENST00000311737.11:c.207C>G (PRSS1) | ENSP00000308720.7:p.Ile69Met | |
| ENST00000463701.1:n.671C>G (PRSS1) | ||
| ENST00000485223.1:n.1205C>G (PRSS1) | ||
| ENST00000486171.5:c.249C>G (PRSS1) | ENSP00000417854.1:p.Ile83Met | |
| ENST00000492062.1:c.57C>G (PRSS1) | ENSP00000419912.1:p.Ile19Met | |
| ENST00000610416.2:c.370+30594C>G (TRBC1) | ENSP00000482915.1:n.370+30594C>G | |
| ENST00000612126.4:c.207C>G (PRSS1) | ENSP00000479959.1:p.Ile69Met | |
| ENST00000619214.4:c.207C>G (PRSS1) | ENSP00000481361.1:p.Ile69Met | |
| ENST00000633114.1:c.207C>G (PRSS2) | ENSP00000487822.1:p.Ile69Met | |
| ENST00000634019.1:c.82+2989C>G (PRSS2) | ENSP00000488594.1:n.82+2989C>G | |
| NM_002769.4:c.207C>G (PRSS1) | NP_002760.1:p.Ile69Met | |
| XM_011516411.1:c.882C>G (PRSS1) | XP_011514713.1:p.Ile294Met | |
| NM_002769.5:c.207C>G (PRSS1) MANE Select | NP_002760.1:p.Ile69Met | |
| NR_172947.1:n.198-49C>G (PRSS1) | ||
| NR_172948.1:n.198-52C>G (PRSS1) | ||
| NR_172949.1:n.146C>G (PRSS1) | ||
| NR_172950.1:n.60C>G (PRSS1) | ||
| NR_172951.1:n.140-146C>G (PRSS1) |