gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16639499 (AFR)
Genomes Max Group AF
0.16639499 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.71771837G>T , CM000680.2:g.71771837G>T | GRCh38 |
| NC_000018.9:g.69439073G>T , CM000680.1:g.69439073G>T | GRCh37 |
| NC_000018.8:g.67590053G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126324.1:n.37+10353C>A |