gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2010635 (AFR)
Genomes Max Group AF
0.2010635 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31481085C>A , CM000668.2:g.31481085C>A | GRCh38 |
| NC_000006.11:g.31448862C>A , CM000668.1:g.31448862C>A | GRCh37 |
| NC_000006.10:g.31556841C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926693.1:n.815G>T | ||
| NR_149132.1:n.815G>T |