gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30797959 (AMR)
Genomes Max Group AF
0.30797959 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173243134C>T , CM000663.2:g.173243134C>T | GRCh38 |
| NC_000001.10:g.173212273C>T , CM000663.1:g.173212273C>T | GRCh37 |
| NC_000001.9:g.171478896C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-3111G>A | ||
| XM_017002229.1:c.25-35949G>A | XP_016857718.1:n.25-35949G>A | |
| XM_017002230.1:c.19-35949G>A | XP_016857719.1:n.19-35949G>A |