gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82277084 (AFR)
Genomes Max Group AF
0.82277084 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47232959T>C , CM000681.2:g.47232959T>C | GRCh38 |
| NC_000019.9:g.47736216T>C , CM000681.1:g.47736216T>C | GRCh37 |
| NC_000019.8:g.52428056T>C | NCBI36 |
| NG_031991.1:g.4808A>G | |
| NG_031991.2:g.4808A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006723141.2:c.-193A>G | XP_006723204.1:n.-193A>G | |
| XM_006723141.3:c.-193A>G | XP_006723204.1:n.-193A>G |