gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6491566 (AFR)
Genomes Max Group AF
0.6491566 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20224379T>G , CM000670.2:g.20224379T>G | GRCh38 |
| NC_000008.10:g.20081890T>G , CM000670.1:g.20081890T>G | GRCh37 |
| NC_000008.9:g.20126170T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521442.1:c.102-903T>G | ||
| XR_002956632.1:n.6989T>G | ||
| XR_002956633.1:n.7457T>G |