gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000218 (NFE)
Exomes Max Group AF
0.00000235 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115378G>A , CM000681.2:g.10115378G>A | GRCh38 |
| NC_000019.9:g.10226054G>A , CM000681.1:g.10226054G>A | GRCh37 |
| NC_000019.8:g.10087054G>A | NCBI36 |
| NG_047007.1:g.8858G>A | |
| NG_051197.1:g.9547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+101C>T (EIF3G) MANE Select | ENSP00000253108.3:n.947+101C>T | |
| ENST00000253108.8:c.947+101C>T (EIF3G) | ENSP00000253108.3:n.947+101C>T | |
| ENST00000590158.1:n.966+101C>T (EIF3G) | ||
| ENST00000593054.5:c.341+101C>T (EIF3G) | ENSP00000467187.1:n.341+101C>T | |
| NM_001040664.2:c.*640G>A (PPAN-P2RY11) | NP_001035754.1:n.*640G>A | |
| NM_001198690.1:c.*1524G>A (PPAN-P2RY11) | NP_001185619.1:n.*1524G>A | |
| NM_002566.4:c.*640G>A (P2RY11) | NP_002557.2:n.*640G>A | |
| NM_003755.3:c.947+101C>T (EIF3G) | NP_003746.2:n.947+101C>T | |
| NM_003755.4:c.947+101C>T (EIF3G) | NP_003746.2:n.947+101C>T | |
| NM_003755.5:c.947+101C>T (EIF3G) MANE Select | NP_003746.2:n.947+101C>T |