gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53737262 (AFR)
Genomes Max Group AF
0.53737262 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24419438G>A , CM000684.2:g.24419438G>A | GRCh38 |
| NC_000022.10:g.24815406G>A , CM000684.1:g.24815406G>A | GRCh37 |
| NC_000022.9:g.23145406G>A | NCBI36 |
| NG_031915.2:g.153617G>A | |
| NG_052804.1:g.842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358654.2:c.*861+4694G>A (SPECC1L-ADORA2A) | ENSP00000351480.2:n.*861+4694G>A | |
| ENST00000467385.5:n.381+1179G>A (ADORA2A) | ||
| NR_103546.1:n.3905+4694G>A (SPECC1L-ADORA2A) |