gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27560031 (AFR)
Genomes Max Group AF
0.2745777 (AFR)
Exomes Max Group AF
0.27324938 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111079610C>A , CM000672.2:g.111079610C>A | GRCh38 |
| NC_000010.10:g.112839368C>A , CM000672.1:g.112839368C>A | GRCh37 |
| NC_000010.9:g.112829358C>A | NCBI36 |
| NG_012020.1:g.7579C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280155.4:c.*216C>A MANE Select | ENSP00000280155.2:n.*216C>A | |
| ENST00000280155.3:c.*216C>A | ENSP00000280155.2:n.*216C>A | |
| NM_000681.3:c.*216C>A | NP_000672.3:n.*216C>A | |
| NM_000681.4:c.*216C>A MANE Select | NP_000672.3:n.*216C>A |