gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36475535 (AMR)
Genomes Max Group AF
0.36475535 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173257056T>G , CM000663.2:g.173257056T>G | GRCh38 |
| NC_000001.10:g.173226195T>G , CM000663.1:g.173226195T>G | GRCh37 |
| NC_000001.9:g.171492818T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-17033A>C | ||
| XM_017002229.1:c.25-49871A>C | XP_016857718.1:n.25-49871A>C | |
| XM_017002230.1:c.19-49871A>C | XP_016857719.1:n.19-49871A>C |