Linked Data
ClinVar Variation Id:
11878
ClinVar RCV Id:
RCV000012653
dbSNP Id:
rs111033567
gnomAD v4:
7-142750582-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750582A>G , CM000669.2:g.142750582A>G | GRCh38 |
| NC_000007.13:g.142458433A>G , CM000669.1:g.142458433A>G | GRCh37 |
| NC_000007.12:g.142138007A>G | NCBI36 |
| NG_008307.3:g.6099A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.68A>G (PRSS1) MANE Select | ENSP00000308720.7:p.Lys23Arg | |
| ENST00000311737.11:c.68A>G (PRSS1) | ENSP00000308720.7:p.Lys23Arg | |
| ENST00000485223.1:n.54-47A>G (PRSS1) | ||
| ENST00000486171.5:c.68A>G (PRSS1) | ENSP00000417854.1:p.Lys23Arg | |
| ENST00000497041.1:n.72A>G (PRSS1) | ||
| ENST00000610416.2:c.370+29396A>G (TRBC1) | ENSP00000482915.1:n.370+29396A>G | |
| ENST00000612126.4:c.68A>G (PRSS1) | ENSP00000479959.1:p.Lys23Arg | |
| ENST00000619214.4:c.68A>G (PRSS1) | ENSP00000481361.1:p.Lys23Arg | |
| ENST00000633114.1:c.68A>G (PRSS2) | ENSP00000487822.1:p.Lys23Arg | |
| ENST00000634019.1:c.82+1791A>G (PRSS2) | ENSP00000488594.1:n.82+1791A>G | |
| NM_002769.4:c.68A>G (PRSS1) | NP_002760.1:p.Lys23Arg | |
| XM_011516411.1:c.743A>G (PRSS1) | XP_011514713.1:p.Lys248Arg | |
| NM_002769.5:c.68A>G (PRSS1) MANE Select | NP_002760.1:p.Lys23Arg | |
| NR_172947.1:n.81A>G (PRSS1) | ||
| NR_172948.1:n.81A>G (PRSS1) | ||
| NR_172949.1:n.54-47A>G (PRSS1) | ||
| NR_172950.1:n.53+1058A>G (PRSS1) | ||
| NR_172951.1:n.54-47A>G (PRSS1) |