gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95813721 (EAS)
Genomes Max Group AF
0.95813721 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21996631A>G , CM000668.2:g.21996631A>G | GRCh38 |
| NC_000006.11:g.21996860A>G , CM000668.1:g.21996860A>G | GRCh37 |
| NC_000006.10:g.22104839A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.868+17569A>G | ||
| NR_015410.2:n.899+17569A>G |