gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8981433 (EAS)
Genomes Max Group AF
0.8981433 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79516830C>A , CM000678.2:g.79516830C>A | GRCh38 |
| NC_000016.9:g.79550727C>A , CM000678.1:g.79550727C>A | GRCh37 |
| NC_000016.8:g.78108228C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523084.1:c.*28+69050G>T | XP_011521386.1:n.*28+69050G>T | |
| XM_024450279.1:c.*28+69050G>T | XP_024306047.1:n.*28+69050G>T | |
| XR_001751902.2:n.3230+69050G>T | ||
| XR_002957802.1:n.3230+69050G>T | ||
| XR_002957803.1:n.3230+69050G>T | ||
| XR_002957804.1:n.3230+69050G>T |