gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39247582 (EAS)
Genomes Max Group AF
0.39247582 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.28768699G>A , CM000683.2:g.28768699G>A | GRCh38 |
| NC_000021.8:g.30141021G>A , CM000683.1:g.30141021G>A | GRCh37 |
| NC_000021.7:g.29062892G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754830.1:n.934+53206C>T | ||
| XR_002958591.1:n.4651+3295C>T |