gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62806518 (AFR)
Genomes Max Group AF
0.62806518 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113903224C>T , CM000673.2:g.113903224C>T | GRCh38 |
| NC_000011.9:g.113773946C>T , CM000673.1:g.113773946C>T | GRCh37 |
| NC_000011.8:g.113279156C>T | NCBI36 |
| NG_011483.1:g.3358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011543064.1:c.12+4141C>T | XP_011541366.1:n.12+4141C>T | |
| XM_024448767.1:c.-243+4141C>T | XP_024304535.1:n.-243+4141C>T |