Linked Data
ClinVar Variation Id:
1692721
ClinVar RCV Id:
RCV002259250
dbSNP Id:
rs762545562
ExAC:
7:142459867 C / T
gnomAD v2:
7-142459867-C-T
gnomAD v3:
7-142752016-C-T
gnomAD v4:
7-142752016-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752016C>T , CM000669.2:g.142752016C>T | GRCh38 |
| NC_000007.13:g.142459867C>T , CM000669.1:g.142459867C>T | GRCh37 |
| NC_000007.12:g.142139441C>T | NCBI36 |
| NG_008307.3:g.7533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.443C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Ala148Val | |
| ENST00000311737.11:c.443C>T (PRSS1) | ENSP00000308720.7:p.Ala148Val | |
| ENST00000463701.1:n.907C>T (PRSS1) | ||
| ENST00000486171.5:c.485C>T (PRSS1) | ENSP00000417854.1:p.Ala162Val | |
| ENST00000492062.1:c.293C>T (PRSS1) | ENSP00000419912.1:p.Ala98Val | |
| ENST00000610416.2:c.370+30830C>T (TRBC1) | ENSP00000482915.1:n.370+30830C>T | |
| ENST00000612126.4:c.443C>T (PRSS1) | ENSP00000479959.1:p.Ala148Val | |
| ENST00000619214.4:c.413C>T (PRSS1) | ENSP00000481361.1:p.Ala138Val | |
| ENST00000633114.1:c.321+122C>T (PRSS2) | ENSP00000487822.1:n.321+122C>T | |
| ENST00000634019.1:c.82+3225C>T (PRSS2) | ENSP00000488594.1:n.82+3225C>T | |
| NM_002769.4:c.443C>T (PRSS1) | NP_002760.1:p.Ala148Val | |
| XM_011516411.1:c.1118C>T (PRSS1) | XP_011514713.1:p.Ala373Val | |
| NM_002769.5:c.443C>T (PRSS1) MANE Select | NP_002760.1:p.Ala148Val | |
| NR_172947.1:n.385C>T (PRSS1) | ||
| NR_172948.1:n.382C>T (PRSS1) | ||
| NR_172949.1:n.382C>T (PRSS1) | ||
| NR_172950.1:n.296C>T (PRSS1) | ||
| NR_172951.1:n.230C>T (PRSS1) |