gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86813944 (AFR)
Genomes Max Group AF
0.86813944 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31297713T>C , CM000668.2:g.31297713T>C | GRCh38 |
| NC_000006.11:g.31265490T>C , CM000668.1:g.31265490T>C | GRCh37 |
| NC_000006.10:g.31373469T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926691.1:n.1909A>G | ||
| NR_149115.1:n.167-2700A>G | ||
| XR_926691.2:n.1925A>G |