gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01443426 (AFR)
Genomes Max Group AF
0.01515645 (AFR)
Exomes Max Group AF
0.0087405 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.630216G>A , CM000663.2:g.630216G>A | GRCh38 |
| NC_000001.10:g.565596G>A , CM000663.1:g.565596G>A | GRCh37 |
| NC_000001.9:g.555459G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-43261C>T | ||
| ENST00000440196.3:n.87-1210C>T | ||
| ENST00000440200.5:n.170-22160C>T | ||
| ENST00000452176.2:n.20+915C>T | ||
| ENST00000634337.2:n.161-22160C>T | ||
| ENST00000635509.2:n.313-28639C>T | ||
| ENST00000641296.1:n.74+915C>T | ||
| ENST00000648019.1:n.636-22160C>T | ||
| ENST00000457540.1:n.577G>A |