gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37730892 (AMR)
Genomes Max Group AF
0.37730892 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818295T>A , CM000668.2:g.50818295T>A | GRCh38 |
| NC_000006.11:g.50786008T>A , CM000668.1:g.50786008T>A | GRCh37 |
| NC_000006.10:g.50893967T>A | NCBI36 |
| NG_008438.1:g.4570T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514835.1:c.-171T>A | XP_011513137.1:n.-171T>A | |
| XM_017011233.1:c.-79T>A | XP_016866722.1:n.-79T>A |