gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4245422 (EAS)
Genomes Max Group AF
0.4245422 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101491489T>A , CM000670.2:g.101491489T>A | GRCh38 |
| NC_000008.10:g.102503717T>A , CM000670.1:g.102503717T>A | GRCh37 |
| NC_000008.9:g.102572893T>A | NCBI36 |
| NG_011971.1:g.4050T>A | |
| NG_011971.2:g.4050T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928472.1:n.959A>T | ||
| XR_001746020.1:n.85+961A>T | ||
| XR_001746021.1:n.607A>T |