gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97402258 (EAS)
Genomes Max Group AF
0.97402258 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92290575C>T , CM000674.2:g.92290575C>T | GRCh38 |
| NC_000012.11:g.92684351C>T , CM000674.1:g.92684351C>T | GRCh37 |
| NC_000012.10:g.91208482C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539067.1:c.124+3850G>A | XP_011537369.1:n.124+3850G>A | |
| XR_945204.1:n.413-21596G>A | ||
| XR_001749257.2:n.414-17959G>A | ||
| XR_001749258.2:n.414-21596G>A | ||
| XR_001749259.2:n.414-1968G>A |