gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87146787 (AFR)
Genomes Max Group AF
0.87146787 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43836834T>G , CM000668.2:g.43836834T>G | GRCh38 |
| NC_000006.11:g.43804571T>G , CM000668.1:g.43804571T>G | GRCh37 |
| NC_000006.10:g.43912549T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744131.1:n.2326T>G | ||
| XR_001744132.1:n.2326T>G | ||
| NM_001318876.2:c.945+307563T>G | NP_001305805.1:n.945+307563T>G |