gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58805671 (AFR)
Genomes Max Group AF
0.58805671 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27258218G>A , CM000671.2:g.27258218G>A | GRCh38 |
| NC_000009.11:g.27258216G>A , CM000671.1:g.27258216G>A | GRCh37 |
| NC_000009.10:g.27248216G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638495.1:n.707+194C>T | ||
| ENST00000640190.1:n.2713+194C>T | ||
| NR_026679.1:n.2713+194C>T |