gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04103785 (NFE)
Genomes Max Group AF
0.04103785 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50268123G>A , CM000675.2:g.50268123G>A | GRCh38 |
| NC_000013.10:g.50842259G>A , CM000675.1:g.50842259G>A | GRCh37 |
| NC_000013.9:g.49740260G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.441-6809G>A | ||
| ENST00000463474.6:n.441-70553G>A | ||
| ENST00000467721.5:n.441-122075G>A | ||
| ENST00000468168.5:n.441-122075G>A | ||
| ENST00000468522.5:n.441-146966G>A | ||
| ENST00000473075.2:n.105+19745G>A | ||
| ENST00000475913.5:n.191+82053G>A | ||
| ENST00000476738.5:n.388-146966G>A | ||
| ENST00000483444.5:n.97+43746G>A | ||
| ENST00000484529.5:n.192-6809G>A | ||
| ENST00000485007.5:n.191+82053G>A | ||
| ENST00000486895.5:n.388-122075G>A | ||
| ENST00000490577.5:n.1637+110047G>A | ||
| ENST00000491341.5:n.441-122075G>A | ||
| ENST00000491615.5:n.441-122075G>A | ||
| NR_109974.1:n.443-122075G>A |