gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4886199 (AMR)
Genomes Max Group AF
0.4886199 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32644620A>G , CM000668.2:g.32644620A>G | GRCh38 |
| NC_000006.11:g.32612397A>G , CM000668.1:g.32612397A>G | GRCh37 |
| NC_000006.10:g.32720375A>G | NCBI36 |
| NG_032876.1:g.12215A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460633.1:n.3008A>G | ||
| XM_006715079.2:c.613+2367A>G | XP_006715142.1:n.613+2367A>G | |
| XM_006715079.4:c.613+2367A>G | XP_006715142.1:n.613+2367A>G |