gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4670521 (AFR)
Genomes Max Group AF
0.4670521 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24480951C>T , CM000680.2:g.24480951C>T | GRCh38 |
| NC_000018.9:g.22060915C>T , CM000680.1:g.22060915C>T | GRCh37 |
| NC_000018.8:g.20314913C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526133.1:c.358-5719C>T | XP_011524435.1:n.358-5719C>T |