gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36406945 (EAS)
Genomes Max Group AF
0.36406945 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8885071C>A , CM000682.2:g.8885071C>A | GRCh38 |
| NC_000020.10:g.8865718C>A , CM000682.1:g.8865718C>A | GRCh37 |
| NC_000020.9:g.8813718C>A | NCBI36 |
| NG_028168.1:g.757423C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635929.1:c.593-77125C>A | ||
| ENST00000487210.5:c.2764-77125C>A |