gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84826443 (AFR)
Genomes Max Group AF
0.84826443 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.76556471G>A , CM000668.2:g.76556471G>A | GRCh38 |
| NC_000006.11:g.77266188G>A , CM000668.1:g.77266188G>A | GRCh37 |
| NC_000006.10:g.77322907G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942696.1:n.393+29977C>T | ||
| NR_149101.1:n.216+29977C>T |