gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001921 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22125735T>G , CM000668.2:g.22125735T>G | GRCh38 |
| NC_000006.11:g.22125964T>G , CM000668.1:g.22125964T>G | GRCh37 |
| NC_000006.10:g.22233943T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.1391+14815T>G | ||
| NR_015410.2:n.1422+14815T>G |