gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56103357 (AFR)
Genomes Max Group AF
0.56103357 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153706503T>G , CM000666.2:g.153706503T>G | GRCh38 |
| NC_000004.11:g.154627655T>G , CM000666.1:g.154627655T>G | GRCh37 |
| NC_000004.10:g.154847105T>G | NCBI36 |
| NG_016229.1:g.27215T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011532215.2:c.*1241T>G | XP_011530517.1:n.*1241T>G | |
| XM_011532216.2:c.*1241T>G | XP_011530518.1:n.*1241T>G | |
| XM_017008573.1:c.*1241T>G | XP_016864062.1:n.*1241T>G | |
| XM_017008574.1:c.*1241T>G | XP_016864063.1:n.*1241T>G | |
| XM_017008575.1:c.*1241T>G | XP_016864064.1:n.*1241T>G | |
| XM_017008576.1:c.*1241T>G | XP_016864065.1:n.*1241T>G |