gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02790708 (AFR)
Genomes Max Group AF
0.02790708 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12404982C>T , CM000686.2:g.12404982C>T | GRCh38 |
| NC_000024.9:g.14516781C>T , CM000686.1:g.14516781C>T | GRCh37 |
| NC_000024.8:g.13026789C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.316+1814G>A | ||
| ENST00000689264.1:n.401+1814G>A | ||
| ENST00000651802.1:n.450+1402G>A | ||
| ENST00000651835.1:n.319+1814G>A | ||
| ENST00000357871.6:n.283+1814G>A | ||
| ENST00000382966.5:n.283+1814G>A | ||
| ENST00000493160.5:n.664+1814G>A |