gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35190329 (EAS)
Genomes Max Group AF
0.35190329 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6789226A>G , CM000674.2:g.6789226A>G | GRCh38 |
| NC_000012.11:g.6898392A>G , CM000674.1:g.6898392A>G | GRCh37 |
| NC_000012.10:g.6768653A>G | NCBI36 |
| NG_027688.1:g.4755A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535707.5:n.149-263A>G |