gnomAD v4:
Joint Max Group AF
0.00000517 (SAS)
Exomes Max Group AF
0.00000559 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115282C>G , CM000681.2:g.10115282C>G | GRCh38 |
| NC_000019.9:g.10225958C>G , CM000681.1:g.10225958C>G | GRCh37 |
| NC_000019.8:g.10086958C>G | NCBI36 |
| NG_047007.1:g.8762C>G | |
| NG_051197.1:g.9643G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.948-153G>C (EIF3G) MANE Select | ENSP00000253108.3:n.948-153G>C | |
| ENST00000321826.5:c.*544C>G (P2RY11) MANE Select | ENSP00000323872.4:n.*544C>G | |
| ENST00000253108.8:c.948-153G>C (EIF3G) | ENSP00000253108.3:n.948-153G>C | |
| ENST00000321826.4:c.*544C>G (P2RY11) | ENSP00000323872.4:n.*544C>G | |
| ENST00000590158.1:n.967-153G>C (EIF3G) | ||
| ENST00000593054.5:c.342-153G>C (EIF3G) | ENSP00000467187.1:n.342-153G>C | |
| NM_001040664.2:c.*544C>G (PPAN-P2RY11) | NP_001035754.1:n.*544C>G | |
| NM_001198690.1:c.*1428C>G (PPAN-P2RY11) | NP_001185619.1:n.*1428C>G | |
| NM_002566.4:c.*544C>G (P2RY11) | NP_002557.2:n.*544C>G | |
| NM_003755.3:c.948-153G>C (EIF3G) | NP_003746.2:n.948-153G>C | |
| NM_003755.4:c.948-153G>C (EIF3G) | NP_003746.2:n.948-153G>C | |
| NM_002566.5:c.*544C>G (P2RY11) MANE Select | NP_002557.2:n.*544C>G | |
| NM_003755.5:c.948-153G>C (EIF3G) MANE Select | NP_003746.2:n.948-153G>C | |
| NM_001040664.3:c.*544C>G (PPAN-P2RY11) | NP_001035754.1:n.*544C>G | |
| NM_001198690.2:c.*1428C>G (PPAN-P2RY11) | NP_001185619.1:n.*1428C>G |