Linked Data
dbSNP Id:
rs763919359
ExAC:
19:10225750 T / C
gnomAD v2:
19-10225750-T-C
gnomAD v4:
19-10115074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115074T>C , CM000681.2:g.10115074T>C | GRCh38 |
| NC_000019.9:g.10225750T>C , CM000681.1:g.10225750T>C | GRCh37 |
| NC_000019.8:g.10086750T>C | NCBI36 |
| NG_047007.1:g.8554T>C | |
| NG_051197.1:g.9851A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.*40A>G (EIF3G) MANE Select | ENSP00000253108.3:n.*40A>G | |
| ENST00000321826.5:c.*336T>C (P2RY11) MANE Select | ENSP00000323872.4:n.*336T>C | |
| ENST00000253108.8:c.*40A>G (EIF3G) | ENSP00000253108.3:n.*40A>G | |
| ENST00000321826.4:c.*336T>C (P2RY11) | ENSP00000323872.4:n.*336T>C | |
| ENST00000590158.1:n.1022A>G (EIF3G) | ||
| ENST00000593054.5:c.397A>G (EIF3G) | ENSP00000467187.1:n.397A>G | |
| NM_001040664.2:c.*336T>C (PPAN-P2RY11) | NP_001035754.1:n.*336T>C | |
| NM_001198690.1:c.*1220T>C (PPAN-P2RY11) | NP_001185619.1:n.*1220T>C | |
| NM_002566.4:c.*336T>C (P2RY11) | NP_002557.2:n.*336T>C | |
| NM_003755.3:c.*40A>G (EIF3G) | NP_003746.2:n.*40A>G | |
| NM_003755.4:c.*40A>G (EIF3G) | NP_003746.2:n.*40A>G | |
| NM_002566.5:c.*336T>C (P2RY11) MANE Select | NP_002557.2:n.*336T>C | |
| NM_003755.5:c.*40A>G (EIF3G) MANE Select | NP_003746.2:n.*40A>G | |
| NM_001040664.3:c.*336T>C (PPAN-P2RY11) | NP_001035754.1:n.*336T>C | |
| NM_001198690.2:c.*1220T>C (PPAN-P2RY11) | NP_001185619.1:n.*1220T>C |