gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015709 (EAS)
Genomes Max Group AF
0.00015709 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.116423793G>T , CM000667.2:g.116423793G>T | GRCh38 |
| NC_000005.9:g.115759490G>T , CM000667.1:g.115759490G>T | GRCh37 |
| NC_000005.8:g.115787389G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017009557.1:c.318-22371G>T | XP_016865046.1:n.318-22371G>T | |
| XR_001742095.2:n.6483-22371G>T | ||
| XR_001742096.2:n.6487-22371G>T | ||
| XR_001742099.2:n.6402-22371G>T | ||
| XR_002956162.1:n.1034-22371G>T |