gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08504455 (MID)
Genomes Max Group AF
0.07050836 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93903875G>A , CM000670.2:g.93903875G>A | GRCh38 |
| NC_000008.10:g.94916103G>A , CM000670.1:g.94916103G>A | GRCh37 |
| NC_000008.9:g.94985279G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523021.1:n.389-17352G>A | ||
| XR_928422.1:n.346+203C>T | ||
| XR_928422.2:n.375+203C>T |