gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31463551 (EAS)
Genomes Max Group AF
0.31463551 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88299792T>A , CM000666.2:g.88299792T>A | GRCh38 |
| NC_000004.11:g.89220944T>A , CM000666.1:g.89220944T>A | GRCh37 |
| NC_000004.10:g.89439968T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244670.3:n.349-12004T>A | ||
| XR_938963.1:n.349-12004T>A | ||
| NR_134236.1:n.133-12004T>A | ||
| NR_134237.1:n.132+14731T>A | ||
| NR_134238.1:n.133-12004T>A |