Linked Data
dbSNP Id:
rs1395467109
gnomAD v2:
19-10226056-G-A
gnomAD v3:
19-10115380-G-A
gnomAD v4:
19-10115380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115380G>A , CM000681.2:g.10115380G>A | GRCh38 |
| NC_000019.9:g.10226056G>A , CM000681.1:g.10226056G>A | GRCh37 |
| NC_000019.8:g.10087056G>A | NCBI36 |
| NG_047007.1:g.8860G>A | |
| NG_051197.1:g.9545C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253108.9:c.947+99C>T (EIF3G) MANE Select | ENSP00000253108.3:n.947+99C>T | |
| ENST00000253108.8:c.947+99C>T (EIF3G) | ENSP00000253108.3:n.947+99C>T | |
| ENST00000590158.1:n.966+99C>T (EIF3G) | ||
| ENST00000593054.5:c.341+99C>T (EIF3G) | ENSP00000467187.1:n.341+99C>T | |
| NM_001040664.2:c.*642G>A (PPAN-P2RY11) | NP_001035754.1:n.*642G>A | |
| NM_001198690.1:c.*1526G>A (PPAN-P2RY11) | NP_001185619.1:n.*1526G>A | |
| NM_002566.4:c.*642G>A (P2RY11) | NP_002557.2:n.*642G>A | |
| NM_003755.3:c.947+99C>T (EIF3G) | NP_003746.2:n.947+99C>T | |
| NM_003755.4:c.947+99C>T (EIF3G) | NP_003746.2:n.947+99C>T | |
| NM_003755.5:c.947+99C>T (EIF3G) MANE Select | NP_003746.2:n.947+99C>T |