Revel Score:
ENST00000381033 (MANE Select)
0.896
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026269 (NFE)
Genomes Max Group AF
0.000135 (NFE)
Exomes Max Group AF
0.00026623 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27920190T>C , CM000675.2:g.27920190T>C | GRCh38 |
| NC_000013.10:g.28494327T>C , CM000675.1:g.28494327T>C | GRCh37 |
| NC_000013.9:g.27392327T>C | NCBI36 |
| NG_008183.1:g.5160T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.52T>C (PDX1) MANE Select | ENSP00000370421.4:p.Cys18Arg | |
| ENST00000381033.4:c.52T>C (PDX1) | ENSP00000370421.4:p.Cys18Arg | |
| NM_000209.3:c.52T>C (PDX1) | NP_000200.1:p.Cys18Arg | |
| NR_047484.1:n.241+974A>G (PLUT) | ||
| XR_941578.1:n.197T>C (PDX1) | ||
| XR_941579.1:n.197T>C (PDX1) | ||
| XR_941580.1:n.197T>C (PDX1) | ||
| XR_941578.2:n.209T>C (PDX1) | ||
| XR_941580.2:n.209T>C (PDX1) | ||
| NM_000209.4:c.52T>C (PDX1) MANE Select | NP_000200.1:p.Cys18Arg |