gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53581754 (AMR)
Genomes Max Group AF
0.53581754 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57116878C>T , CM000674.2:g.57116878C>T | GRCh38 |
| NC_000012.11:g.57510661C>T , CM000674.1:g.57510661C>T | GRCh37 |
| NC_000012.10:g.55796928C>T | NCBI36 |
| NG_021272.2:g.20262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553499.5:c.-21-8579G>A | ENSP00000451074.1:n.-21-8579G>A | |
| ENST00000556155.5:c.-21-8579G>A | ENSP00000451742.1:n.-21-8579G>A |