gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44392183 (AFR)
Genomes Max Group AF
0.44392183 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.87239348A>G , CM000663.2:g.87239348A>G | GRCh38 |
| NC_000001.10:g.87705031A>G , CM000663.1:g.87705031A>G | GRCh37 |
| NC_000001.9:g.87477619A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001290053.1:c.1-4267A>G | NP_001276982.1:n.1-4267A>G | |
| XM_011542525.1:c.403+12202A>G | XP_011540827.1:n.403+12202A>G | |
| XM_016999997.1:c.1-4267A>G | XP_016855486.1:n.1-4267A>G | |
| NR_167752.1:n.299-4267A>G |