gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92026528 (NFE)
Genomes Max Group AF
0.92026528 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79551124C>T , CM000678.2:g.79551124C>T | GRCh38 |
| NC_000016.9:g.79585021C>T , CM000678.1:g.79585021C>T | GRCh37 |
| NC_000016.8:g.78142522C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523084.1:c.*28+34756G>A | XP_011521386.1:n.*28+34756G>A | |
| XM_024450279.1:c.*28+34756G>A | XP_024306047.1:n.*28+34756G>A | |
| XR_001751902.2:n.3230+34756G>A | ||
| XR_002957802.1:n.3230+34756G>A | ||
| XR_002957803.1:n.3230+34756G>A | ||
| XR_002957804.1:n.3230+34756G>A |