gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48915743 (AFR)
Genomes Max Group AF
0.48915743 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52574351C>G , CM000678.2:g.52574351C>G | GRCh38 |
| NC_000016.9:g.52608263C>G , CM000678.1:g.52608263C>G | GRCh37 |
| NC_000016.8:g.51165764C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033920.1:n.605-11489G>C |