gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72586728 (AFR)
Genomes Max Group AF
0.72586728 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13061285G>A , CM000672.2:g.13061285G>A | GRCh38 |
| NC_000010.10:g.13103285G>A , CM000672.1:g.13103285G>A | GRCh37 |
| NC_000010.9:g.13143291G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378839.1:c.-269-11344C>T | ENSP00000368116.1:n.-269-11344C>T | |
| NM_001282658.1:c.-269-11344C>T | NP_001269587.1:n.-269-11344C>T | |
| NM_001282658.2:c.-269-11344C>T | NP_001269587.1:n.-269-11344C>T |