gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57044194 (NFE)
Genomes Max Group AF
0.57044194 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142749077T>C , CM000669.2:g.142749077T>C | GRCh38 |
| NC_000007.13:g.142456928T>C , CM000669.1:g.142456928T>C | GRCh37 |
| NG_008307.3:g.4594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610416.2:c.370+27891T>C (TRBC1) | ENSP00000482915.1:n.370+27891T>C | |
| ENST00000634019.1:c.82+286T>C (PRSS2) | ENSP00000488594.1:n.82+286T>C | |
| XM_011516411.1:c.427-159T>C (PRSS1) | XP_011514713.1:n.427-159T>C |