Linked Data
ClinVar Variation Id:
29923
ClinVar RCV Id:
RCV000022814
dbSNP Id:
rs387906698
ExAC:
7:142459770 C / T
gnomAD v2:
7-142459770-C-T
gnomAD v3:
7-142751919-C-T
gnomAD v4:
7-142751919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751919C>T , CM000669.2:g.142751919C>T | GRCh38 |
| NC_000007.13:g.142459770C>T , CM000669.1:g.142459770C>T | GRCh37 |
| NC_000007.12:g.142139344C>T | NCBI36 |
| NG_008307.3:g.7436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.346C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Arg116Cys | |
| ENST00000311737.11:c.346C>T (PRSS1) | ENSP00000308720.7:p.Arg116Cys | |
| ENST00000463701.1:n.810C>T (PRSS1) | ||
| ENST00000485223.1:n.1344C>T (PRSS1) | ||
| ENST00000486171.5:c.388C>T (PRSS1) | ENSP00000417854.1:p.Arg130Cys | |
| ENST00000492062.1:c.196C>T (PRSS1) | ENSP00000419912.1:p.Arg66Cys | |
| ENST00000610416.2:c.370+30733C>T (TRBC1) | ENSP00000482915.1:n.370+30733C>T | |
| ENST00000612126.4:c.346C>T (PRSS1) | ENSP00000479959.1:p.Arg116Cys | |
| ENST00000619214.4:c.316C>T (PRSS1) | ENSP00000481361.1:p.Arg106Cys | |
| ENST00000633114.1:c.321+25C>T (PRSS2) | ENSP00000487822.1:n.321+25C>T | |
| ENST00000634019.1:c.82+3128C>T (PRSS2) | ENSP00000488594.1:n.82+3128C>T | |
| NM_002769.4:c.346C>T (PRSS1) | NP_002760.1:p.Arg116Cys | |
| XM_011516411.1:c.1021C>T (PRSS1) | XP_011514713.1:p.Arg341Cys | |
| NM_002769.5:c.346C>T (PRSS1) MANE Select | NP_002760.1:p.Arg116Cys | |
| NR_172947.1:n.288C>T (PRSS1) | ||
| NR_172948.1:n.285C>T (PRSS1) | ||
| NR_172949.1:n.285C>T (PRSS1) | ||
| NR_172950.1:n.199C>T (PRSS1) | ||
| NR_172951.1:n.140-7C>T (PRSS1) |