Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142753949T>G , CM000669.2:g.142753949T>G | GRCh38 |
| NC_000007.13:g.142461800T>G , CM000669.1:g.142461800T>G | GRCh37 |
| NC_000007.12:g.142141374T>G | NCBI36 |
| NG_008307.3:g.9466T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610416.2:c.370+32763T>G (TRBC1) | ENSP00000482915.1:n.370+32763T>G | |
| ENST00000612126.4:c.591+1382T>G (PRSS1) | ENSP00000479959.1:n.591+1382T>G | |
| ENST00000633114.1:c.321+2055T>G (PRSS2) | ENSP00000487822.1:n.321+2055T>G | |
| ENST00000634019.1:c.82+5158T>G (PRSS2) | ENSP00000488594.1:n.82+5158T>G |