gnomAD v4:
Joint Max Group AF
0.00000479 (AFR)
Exomes Max Group AF
0.00001195 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115382C>T , CM000681.2:g.10115382C>T | GRCh38 |
| NC_000019.9:g.10226058C>T , CM000681.1:g.10226058C>T | GRCh37 |
| NC_000019.8:g.10087058C>T | NCBI36 |
| NG_047007.1:g.8862C>T | |
| NG_051197.1:g.9543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+97G>A (EIF3G) MANE Select | ENSP00000253108.3:n.947+97G>A | |
| ENST00000253108.8:c.947+97G>A (EIF3G) | ENSP00000253108.3:n.947+97G>A | |
| ENST00000590158.1:n.966+97G>A (EIF3G) | ||
| ENST00000593054.5:c.341+97G>A (EIF3G) | ENSP00000467187.1:n.341+97G>A | |
| NM_001040664.2:c.*644C>T (PPAN-P2RY11) | NP_001035754.1:n.*644C>T | |
| NM_001198690.1:c.*1528C>T (PPAN-P2RY11) | NP_001185619.1:n.*1528C>T | |
| NM_002566.4:c.*644C>T (P2RY11) | NP_002557.2:n.*644C>T | |
| NM_003755.3:c.947+97G>A (EIF3G) | NP_003746.2:n.947+97G>A | |
| NM_003755.4:c.947+97G>A (EIF3G) | NP_003746.2:n.947+97G>A | |
| NM_003755.5:c.947+97G>A (EIF3G) MANE Select | NP_003746.2:n.947+97G>A |