gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51512784 (AMR)
Genomes Max Group AF
0.51512784 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173254724G>A , CM000663.2:g.173254724G>A | GRCh38 |
| NC_000001.10:g.173223863G>A , CM000663.1:g.173223863G>A | GRCh37 |
| NC_000001.9:g.171490486G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-14701C>T | ||
| XM_017002229.1:c.25-47539C>T | XP_016857718.1:n.25-47539C>T | |
| XM_017002230.1:c.19-47539C>T | XP_016857719.1:n.19-47539C>T |