gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38656465 (AFR)
Genomes Max Group AF
0.38656465 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34657528C>T , CM000669.2:g.34657528C>T | GRCh38 |
| NC_000007.13:g.34697140C>T , CM000669.1:g.34697140C>T | GRCh37 |
| NC_000007.12:g.34663665C>T | NCBI36 |
| NG_012185.1:g.4244C>T | |
| NG_021366.1:g.181804G>A | |
| NG_012185.2:g.4244C>T | |
| NG_021366.2:g.181804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033664.1:n.279+71209G>A | ||
| NR_033665.1:n.279+71209G>A |