gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18120005 (AFR)
Genomes Max Group AF
0.18120005 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31693166A>G , CM000680.2:g.31693166A>G | GRCh38 |
| NC_000018.9:g.29273129A>G , CM000680.1:g.29273129A>G | GRCh37 |
| NC_000018.8:g.27527127A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005258387.3:c.80-26794T>C | XP_005258444.1:n.80-26794T>C | |
| XM_005258387.4:c.80-26794T>C | XP_005258444.1:n.80-26794T>C |