gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86545978 (EAS)
Genomes Max Group AF
0.86545978 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.17709320A>G , CM000668.2:g.17709320A>G | GRCh38 |
| NC_000006.11:g.17709551A>G , CM000668.1:g.17709551A>G | GRCh37 |
| NC_000006.10:g.17817530A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926543.1:n.320-1469A>G | ||
| XR_926544.1:n.1022+213A>G | ||
| XR_926545.1:n.848-1469A>G | ||
| NR_134618.1:n.320-1469A>G |