gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0106491 (MID)
Genomes Max Group AF
0.00646363 (NFE)
Exomes Max Group AF
0.01168972 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.633438G>A , CM000663.2:g.633438G>A | GRCh38 |
| NC_000001.10:g.568818G>A , CM000663.1:g.568818G>A | GRCh37 |
| NC_000001.9:g.558681G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-46483C>T | ||
| ENST00000440200.5:n.170-25382C>T | ||
| ENST00000634337.2:n.161-25382C>T | ||
| ENST00000635509.2:n.313-31861C>T | ||
| ENST00000648019.1:n.636-25382C>T | ||
| ENST00000427426.1:n.682G>A |