gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07563441 (AFR)
Genomes Max Group AF
0.07471594 (AFR)
Exomes Max Group AF
0.07611381 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50361786C>T , CM000675.2:g.50361786C>T | GRCh38 |
| NC_000013.10:g.50935922C>T , CM000675.1:g.50935922C>T | GRCh37 |
| NC_000013.9:g.49833923C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.556-53304C>T | ||
| ENST00000463357.5:n.181-28412C>T | ||
| ENST00000463474.6:n.599+22952C>T | ||
| ENST00000467721.5:n.441-28412C>T | ||
| ENST00000468168.5:n.441-28412C>T | ||
| ENST00000468522.5:n.441-53303C>T | ||
| ENST00000469127.5:n.113-28412C>T | ||
| ENST00000475913.5:n.192-28412C>T | ||
| ENST00000476738.5:n.388-53303C>T | ||
| ENST00000483444.5:n.98-28412C>T | ||
| ENST00000484529.5:n.307-28412C>T | ||
| ENST00000485007.5:n.192-28412C>T | ||
| ENST00000486895.5:n.388-28412C>T | ||
| ENST00000489542.6:n.80-27301C>T | ||
| ENST00000490577.5:n.1638-71627C>T | ||
| ENST00000491341.5:n.441-28412C>T | ||
| ENST00000491615.5:n.441-28412C>T | ||
| NR_109974.1:n.443-28412C>T |