Linked Data
dbSNP Id:
rs750740780
ExAC:
7:142458394 T / C
gnomAD v2:
7-142458394-T-C
gnomAD v4:
7-142750543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750543T>C , CM000669.2:g.142750543T>C | GRCh38 |
| NC_000007.13:g.142458394T>C , CM000669.1:g.142458394T>C | GRCh37 |
| NC_000007.12:g.142137968T>C | NCBI36 |
| NG_008307.3:g.6060T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311737.12:c.41-12T>C (PRSS1) MANE Select | ENSP00000308720.7:n.41-12T>C | |
| ENST00000311737.11:c.41-12T>C (PRSS1) | ENSP00000308720.7:n.41-12T>C | |
| ENST00000485223.1:n.54-86T>C (PRSS1) | ||
| ENST00000486171.5:c.41-12T>C (PRSS1) | ENSP00000417854.1:n.41-12T>C | |
| ENST00000497041.1:n.45-12T>C (PRSS1) | ||
| ENST00000610416.2:c.370+29357T>C (TRBC1) | ENSP00000482915.1:n.370+29357T>C | |
| ENST00000612126.4:c.41-12T>C (PRSS1) | ENSP00000479959.1:n.41-12T>C | |
| ENST00000619214.4:c.41-12T>C (PRSS1) | ENSP00000481361.1:n.41-12T>C | |
| ENST00000633114.1:c.41-12T>C (PRSS2) | ENSP00000487822.1:n.41-12T>C | |
| ENST00000634019.1:c.82+1752T>C (PRSS2) | ENSP00000488594.1:n.82+1752T>C | |
| NM_002769.4:c.41-12T>C (PRSS1) | NP_002760.1:n.41-12T>C | |
| XM_011516411.1:c.716-12T>C (PRSS1) | XP_011514713.1:n.716-12T>C | |
| NM_002769.5:c.41-12T>C (PRSS1) MANE Select | NP_002760.1:n.41-12T>C | |
| NR_172947.1:n.54-12T>C (PRSS1) | ||
| NR_172948.1:n.54-12T>C (PRSS1) | ||
| NR_172949.1:n.54-86T>C (PRSS1) | ||
| NR_172950.1:n.53+1019T>C (PRSS1) | ||
| NR_172951.1:n.54-86T>C (PRSS1) |