gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93776619 (EAS)
Genomes Max Group AF
0.93776619 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.34255008G>T , CM000664.2:g.34255008G>T | GRCh38 |
| NC_000002.11:g.34480075G>T , CM000664.1:g.34480075G>T | GRCh37 |
| NC_000002.10:g.34333579G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126403.1:n.390-31635G>T |