gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7647747 (EAS)
Genomes Max Group AF
0.7647747 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61203304A>G , CM000667.2:g.61203304A>G | GRCh38 |
| NC_000005.9:g.60499131A>G , CM000667.1:g.60499131A>G | GRCh37 |
| NC_000005.8:g.60534888A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109908.1:n.422+22866A>G (SMIM15-AS1) | ||
| XR_948364.1:n.731-1600T>C (LINC02057) |