gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002009 (NFE)
Exomes Max Group AF
0.00001696 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12406734G>A , CM000686.2:g.12406734G>A | GRCh38 |
| NC_000024.9:g.14518533G>A , CM000686.1:g.14518533G>A | GRCh37 |
| NC_000024.8:g.13028541G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.316+62C>T | ||
| ENST00000689264.1:n.401+62C>T | ||
| ENST00000651802.1:n.333+62C>T | ||
| ENST00000651835.1:n.319+62C>T | ||
| ENST00000357871.6:n.283+62C>T | ||
| ENST00000382963.5:n.316+62C>T | ||
| ENST00000382966.5:n.283+62C>T | ||
| ENST00000493160.5:n.664+62C>T | ||
| NR_033667.1:n.439+62C>T |