gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62741944 (AFR)
Genomes Max Group AF
0.62741944 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35728742G>A , CM000683.2:g.35728742G>A | GRCh38 |
| NC_000021.8:g.37101040G>A , CM000683.1:g.37101040G>A | GRCh37 |
| NC_000021.7:g.36022910G>A | NCBI36 |
| NG_011402.2:g.260969C>T , LRG_482:g.260969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475045.6:c.-587-73867C>T | ENSP00000477072.1:n.-587-73867C>T |