gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57996035 (AFR)
Genomes Max Group AF
0.57996035 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.26517999A>G , CM000669.2:g.26517999A>G | GRCh38 |
| NC_000007.13:g.26557618A>G , CM000669.1:g.26557618A>G | GRCh37 |
| NC_000007.12:g.26524143A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_148499.1:n.1386-20254A>G | ||
| NR_148500.1:n.981-20254A>G | ||
| NR_148501.1:n.1264-20254A>G | ||
| NR_148502.1:n.1209-20254A>G |