Linked Data
ClinVar Variation Id:
38362
ClinVar RCV Id:
RCV001328423
dbSNP Id:
rs397507440
gnomAD v4:
7-142751988-T-A
PubMed:
PMID:22379635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751988T>A , CM000669.2:g.142751988T>A | GRCh38 |
| NC_000007.13:g.142459839T>A , CM000669.1:g.142459839T>A | GRCh37 |
| NC_000007.12:g.142139413T>A | NCBI36 |
| NG_008307.3:g.7505T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311737.12:c.415T>A (PRSS1) MANE Select | ENSP00000308720.7:p.Cys139Ser | |
| ENST00000311737.11:c.415T>A (PRSS1) | ENSP00000308720.7:p.Cys139Ser | |
| ENST00000463701.1:n.879T>A (PRSS1) | ||
| ENST00000485223.1:n.1413T>A (PRSS1) | ||
| ENST00000486171.5:c.457T>A (PRSS1) | ENSP00000417854.1:p.Cys153Ser | |
| ENST00000492062.1:c.265T>A (PRSS1) | ENSP00000419912.1:p.Cys89Ser | |
| ENST00000610416.2:c.370+30802T>A (TRBC1) | ENSP00000482915.1:n.370+30802T>A | |
| ENST00000612126.4:c.415T>A (PRSS1) | ENSP00000479959.1:p.Cys139Ser | |
| ENST00000619214.4:c.385T>A (PRSS1) | ENSP00000481361.1:p.Cys129Ser | |
| ENST00000633114.1:c.321+94T>A (PRSS2) | ENSP00000487822.1:n.321+94T>A | |
| ENST00000634019.1:c.82+3197T>A (PRSS2) | ENSP00000488594.1:n.82+3197T>A | |
| NM_002769.4:c.415T>A (PRSS1) | NP_002760.1:p.Cys139Ser | |
| XM_011516411.1:c.1090T>A (PRSS1) | XP_011514713.1:p.Cys364Ser | |
| NM_002769.5:c.415T>A (PRSS1) MANE Select | NP_002760.1:p.Cys139Ser | |
| NR_172947.1:n.357T>A (PRSS1) | ||
| NR_172948.1:n.354T>A (PRSS1) | ||
| NR_172949.1:n.354T>A (PRSS1) | ||
| NR_172950.1:n.268T>A (PRSS1) | ||
| NR_172951.1:n.202T>A (PRSS1) |