Linked Data
ClinVar Variation Id:
459184
dbSNP Id:
rs117497341
ExAC:
7:142459834 C / T
gnomAD v2:
7-142459834-C-T
gnomAD v3:
7-142751983-C-T
gnomAD v4:
7-142751983-C-T
COSMIC:
COSM32828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751983C>T , CM000669.2:g.142751983C>T | GRCh38 |
| NC_000007.13:g.142459834C>T , CM000669.1:g.142459834C>T | GRCh37 |
| NC_000007.12:g.142139408C>T | NCBI36 |
| NG_008307.3:g.7500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.410C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Thr137Met | |
| ENST00000311737.11:c.410C>T (PRSS1) | ENSP00000308720.7:p.Thr137Met | |
| ENST00000463701.1:n.874C>T (PRSS1) | ||
| ENST00000485223.1:n.1408C>T (PRSS1) | ||
| ENST00000486171.5:c.452C>T (PRSS1) | ENSP00000417854.1:p.Thr151Met | |
| ENST00000492062.1:c.260C>T (PRSS1) | ENSP00000419912.1:p.Thr87Met | |
| ENST00000610416.2:c.370+30797C>T (TRBC1) | ENSP00000482915.1:n.370+30797C>T | |
| ENST00000612126.4:c.410C>T (PRSS1) | ENSP00000479959.1:p.Thr137Met | |
| ENST00000619214.4:c.380C>T (PRSS1) | ENSP00000481361.1:p.Thr127Met | |
| ENST00000633114.1:c.321+89C>T (PRSS2) | ENSP00000487822.1:n.321+89C>T | |
| ENST00000634019.1:c.82+3192C>T (PRSS2) | ENSP00000488594.1:n.82+3192C>T | |
| NM_002769.4:c.410C>T (PRSS1) | NP_002760.1:p.Thr137Met | |
| XM_011516411.1:c.1085C>T (PRSS1) | XP_011514713.1:p.Thr362Met | |
| NM_002769.5:c.410C>T (PRSS1) MANE Select | NP_002760.1:p.Thr137Met | |
| NR_172947.1:n.352C>T (PRSS1) | ||
| NR_172948.1:n.349C>T (PRSS1) | ||
| NR_172949.1:n.349C>T (PRSS1) | ||
| NR_172950.1:n.263C>T (PRSS1) | ||
| NR_172951.1:n.197C>T (PRSS1) |