gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14211801 (EAS)
Genomes Max Group AF
0.14211801 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94552459G>A , CM000671.2:g.94552459G>A | GRCh38 |
| NC_000009.11:g.97314741G>A , CM000671.1:g.97314741G>A | GRCh37 |
| NC_000009.10:g.96354562G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011518795.1:c.-3294+782C>T | XP_011517097.1:n.-3294+782C>T | |
| XM_011518796.1:c.-3294+782C>T | XP_011517098.1:n.-3294+782C>T |