gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24738621 (AFR)
Genomes Max Group AF
0.24738621 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135132010G>A , CM000667.2:g.135132010G>A | GRCh38 |
| NC_000005.9:g.134467700G>A , CM000667.1:g.134467700G>A | GRCh37 |
| NC_000005.8:g.134495599G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-492-42032G>A | NP_001264277.1:n.-492-42032G>A | |
| XR_948807.2:n.377C>T | ||
| NR_161235.1:n.337-42032G>A |