gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07479351 (AFR)
Genomes Max Group AF
0.07479351 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49418853C>A , CM000684.2:g.49418853C>A | GRCh38 |
| NC_000022.10:g.49812502C>A , CM000684.1:g.49812502C>A | GRCh37 |
| NC_000022.9:g.48198506C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110522.1:n.139-1925G>T | ||
| NR_110523.1:n.476-1925G>T | ||
| NR_110522.2:n.116-1925G>T | ||
| NR_110523.2:n.453-1925G>T |