gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42184571 (AFR)
Genomes Max Group AF
0.42160614 (AFR)
Exomes Max Group AF
0.41293456 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.226756C>A , CM000674.2:g.226756C>A | GRCh38 |
| NC_000012.11:g.335922C>A , CM000674.1:g.335922C>A | GRCh37 |
| NC_000012.10:g.206183C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.936-242G>T MANE Select | ENSP00000339260.4:n.936-242G>T | |
| ENST00000343164.8:c.936-242G>T | ENSP00000339260.4:n.936-242G>T | |
| ENST00000445055.6:c.660-242G>T | ENSP00000407104.2:n.660-242G>T | |
| ENST00000542379.1:n.220-3522G>T | ||
| ENST00000542947.1:n.216G>T | ||
| NM_001190997.2:c.660-242G>T | NP_001177926.1:n.660-242G>T | |
| NM_016615.4:c.936-242G>T | NP_057699.2:n.936-242G>T | |
| XM_005253749.2:c.1002-242G>T | XP_005253806.1:n.1002-242G>T | |
| XM_006719008.2:c.207-242G>T | XP_006719071.1:n.207-242G>T | |
| XM_011521012.1:c.579-242G>T | XP_011519314.1:n.579-242G>T | |
| XM_011521013.1:c.450-242G>T | XP_011519315.1:n.450-242G>T | |
| XM_011521014.1:c.450-242G>T | XP_011519316.1:n.450-242G>T | |
| XM_006719008.3:c.207-242G>T | XP_006719071.1:n.207-242G>T | |
| XM_011521012.2:c.579-242G>T | XP_011519314.1:n.579-242G>T | |
| XM_017019842.1:c.373-12G>T | XP_016875331.1:n.373-12G>T | |
| XM_017019844.1:c.936-242G>T | XP_016875333.1:n.936-242G>T | |
| XM_017019845.1:c.207-242G>T | XP_016875334.1:n.207-242G>T | |
| XM_017019846.1:c.*390G>T | XP_016875335.1:n.*390G>T | |
| XM_017019847.1:c.*46G>T | XP_016875336.1:n.*46G>T | |
| XR_001748849.1:n.989-242G>T | ||
| XR_002957372.1:n.1061-242G>T | ||
| NM_016615.5:c.936-242G>T MANE Select | NP_057699.2:n.936-242G>T | |
| NM_001190997.3:c.660-242G>T | NP_001177926.1:n.660-242G>T |