gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65247878 (AFR)
Genomes Max Group AF
0.65247878 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7342688A>G , CM000686.2:g.7342688A>G | GRCh38 |
| NC_000024.9:g.7210729A>G , CM000686.1:g.7210729A>G | GRCh37 |
| NC_000024.8:g.7270729A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472666.1:n.199+1454A>G | ||
| ENST00000528056.5:n.1060+1454A>G | ||
| ENST00000533551.5:n.719+1454A>G | ||
| NR_028062.1:n.1060+1454A>G |