Linked Data
ClinVar Variation Id:
411135
dbSNP Id:
rs147765409
ExAC:
7:142459877 C / T
gnomAD v2:
7-142459877-C-T
gnomAD v3:
7-142752026-C-T
gnomAD v4:
7-142752026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752026C>T , CM000669.2:g.142752026C>T | GRCh38 |
| NC_000007.13:g.142459877C>T , CM000669.1:g.142459877C>T | GRCh37 |
| NC_000007.12:g.142139451C>T | NCBI36 |
| NG_008307.3:g.7543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.453C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Gly151= | |
| ENST00000311737.11:c.453C>T (PRSS1) | ENSP00000308720.7:p.Gly151= | |
| ENST00000463701.1:n.917C>T (PRSS1) | ||
| ENST00000486171.5:c.495C>T (PRSS1) | ENSP00000417854.1:p.Gly165= | |
| ENST00000492062.1:c.303C>T (PRSS1) | ENSP00000419912.1:p.Gly101= | |
| ENST00000610416.2:c.370+30840C>T (TRBC1) | ENSP00000482915.1:n.370+30840C>T | |
| ENST00000612126.4:c.453C>T (PRSS1) | ENSP00000479959.1:p.Gly151= | |
| ENST00000619214.4:c.423C>T (PRSS1) | ENSP00000481361.1:p.Gly141= | |
| ENST00000633114.1:c.321+132C>T (PRSS2) | ENSP00000487822.1:n.321+132C>T | |
| ENST00000634019.1:c.82+3235C>T (PRSS2) | ENSP00000488594.1:n.82+3235C>T | |
| NM_002769.4:c.453C>T (PRSS1) | NP_002760.1:p.Gly151= | |
| XM_011516411.1:c.1128C>T (PRSS1) | XP_011514713.1:p.Gly376= | |
| NM_002769.5:c.453C>T (PRSS1) MANE Select | NP_002760.1:p.Gly151= | |
| NR_172947.1:n.395C>T (PRSS1) | ||
| NR_172948.1:n.392C>T (PRSS1) | ||
| NR_172949.1:n.392C>T (PRSS1) | ||
| NR_172950.1:n.306C>T (PRSS1) | ||
| NR_172951.1:n.240C>T (PRSS1) |