Linked Data
ClinVar Variation Id:
8860
ClinVar RCV Id:
RCV001799502
dbSNP Id:
rs137852784
gnomAD v2:
13-28494451-A-T
gnomAD v3:
13-27920314-A-T
gnomAD v4:
13-27920314-A-T
PubMed:
PMID:10545531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27920314A>T , CM000675.2:g.27920314A>T | GRCh38 |
| NC_000013.10:g.28494451A>T , CM000675.1:g.28494451A>T | GRCh37 |
| NC_000013.9:g.27392451A>T | NCBI36 |
| NG_008183.1:g.5284A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381033.5:c.176A>T (PDX1) MANE Select | ENSP00000370421.4:p.Gln59Leu | |
| ENST00000381033.4:c.176A>T (PDX1) | ENSP00000370421.4:p.Gln59Leu | |
| NM_000209.3:c.176A>T (PDX1) | NP_000200.1:p.Gln59Leu | |
| NR_047484.1:n.241+850T>A (PLUT) | ||
| XR_941578.1:n.321A>T (PDX1) | ||
| XR_941579.1:n.321A>T (PDX1) | ||
| XR_941580.1:n.321A>T (PDX1) | ||
| XR_941578.2:n.333A>T (PDX1) | ||
| XR_941580.2:n.333A>T (PDX1) | ||
| NM_000209.4:c.176A>T (PDX1) MANE Select | NP_000200.1:p.Gln59Leu |