gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4754801 (AFR)
Genomes Max Group AF
0.47545592 (AFR)
Exomes Max Group AF
0.17768 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5839735G>A , CM000681.2:g.5839735G>A | GRCh38 |
| NC_000019.9:g.5839746G>A , CM000681.1:g.5839746G>A | GRCh37 |
| NC_000019.8:g.5790746G>A | NCBI36 |
| NG_007505.1:g.4997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005259526.3:c.-1244C>T | XP_005259583.1:n.-1244C>T | |
| XM_011527868.1:c.-1316C>T | XP_011526170.1:n.-1316C>T | |
| XM_011527869.1:c.-1313C>T | XP_011526171.1:n.-1313C>T | |
| XM_011527870.1:c.-1424C>T | XP_011526172.1:n.-1424C>T | |
| XM_011527871.1:c.-1534C>T | XP_011526173.1:n.-1534C>T | |
| XM_011527872.1:c.-1444C>T | XP_011526174.1:n.-1444C>T | |
| XM_011527873.1:c.-1379C>T | XP_011526175.1:n.-1379C>T | |
| XM_011527874.1:c.-1399C>T | XP_011526176.1:n.-1399C>T | |
| XM_011527875.1:c.-1470C>T | XP_011526177.1:n.-1470C>T | |
| XM_011527876.1:c.-1425C>T | XP_011526178.1:n.-1425C>T | |
| XM_011527877.1:c.-1471C>T | XP_011526179.1:n.-1471C>T | |
| XM_011527878.1:c.-1316C>T | XP_011526180.1:n.-1316C>T | |
| XM_011527879.1:c.-1271C>T | XP_011526181.1:n.-1271C>T | |
| XM_005259526.5:c.-1244C>T | XP_005259583.1:n.-1244C>T | |
| XM_011527872.3:c.-1444C>T | XP_011526174.1:n.-1444C>T | |
| XM_011527875.3:c.-1470C>T | XP_011526177.1:n.-1470C>T | |
| XM_011527879.3:c.-1271C>T | XP_011526181.1:n.-1271C>T |