gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86068397 (AFR)
Genomes Max Group AF
0.86068397 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129465577C>T , CM000670.2:g.129465577C>T | GRCh38 |
| NC_000008.10:g.130477823C>T , CM000670.1:g.130477823C>T | GRCh37 |
| NC_000008.9:g.130547005C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.360+15066G>A | ||
| NR_130918.1:n.138-95200G>A | ||
| NR_130919.1:n.138-65893G>A | ||
| NR_130920.1:n.138-65893G>A |