gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96966252 (AFR)
Genomes Max Group AF
0.96966252 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28621375A>G , CM000670.2:g.28621375A>G | GRCh38 |
| NC_000008.10:g.28478892A>G , CM000670.1:g.28478892A>G | GRCh37 |
| NC_000008.9:g.28534811A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522725.5:n.314+13617A>G | ||
| XR_949615.1:n.364A>G | ||
| XM_024447096.1:c.-570+13617A>G | XP_024302864.1:n.-570+13617A>G |