Linked Data
ClinVar Variation Id:
385192
ClinVar RCV Id:
RCV002365519
dbSNP Id:
rs146936598
ExAC:
13:28494281 C / T
gnomAD v2:
13-28494281-C-T
gnomAD v3:
13-27920144-C-T
gnomAD v4:
13-27920144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27920144C>T , CM000675.2:g.27920144C>T | GRCh38 |
| NC_000013.10:g.28494281C>T , CM000675.1:g.28494281C>T | GRCh37 |
| NC_000013.9:g.27392281C>T | NCBI36 |
| NG_008183.1:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381033.5:c.6C>T (PDX1) MANE Select | ENSP00000370421.4:p.Asn2= | |
| ENST00000381033.4:c.6C>T (PDX1) | ENSP00000370421.4:p.Asn2= | |
| NM_000209.3:c.6C>T (PDX1) | NP_000200.1:p.Asn2= | |
| NR_047484.1:n.241+1020G>A (PLUT) | ||
| XR_941578.1:n.151C>T (PDX1) | ||
| XR_941579.1:n.151C>T (PDX1) | ||
| XR_941580.1:n.151C>T (PDX1) | ||
| XR_941578.2:n.163C>T (PDX1) | ||
| XR_941580.2:n.163C>T (PDX1) | ||
| NM_000209.4:c.6C>T (PDX1) MANE Select | NP_000200.1:p.Asn2= |