gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23636045 (AFR)
Genomes Max Group AF
0.23636045 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217006626A>G , CM000664.2:g.217006626A>G | GRCh38 |
| NC_000002.11:g.217871349A>G , CM000664.1:g.217871349A>G | GRCh37 |
| NC_000002.10:g.217579594A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+12608A>G | ||
| XR_923883.1:n.294+12608A>G | ||
| XR_923885.1:n.862+12608A>G | ||
| XR_923886.1:n.358+5521A>G | ||
| XR_923887.1:n.299+12608A>G | ||
| XR_001739169.1:n.11844+12608A>G | ||
| XR_001739170.2:n.8480+12608A>G | ||
| XR_001739171.2:n.8347+12608A>G |