dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22802184 (AFR)
Genomes Max Group AF
0.22802184 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35354986A>G , CM000668.2:g.35354986A>G | GRCh38 |
| NC_000006.11:g.35322763A>G , CM000668.1:g.35322763A>G | GRCh37 |
| NC_000006.10:g.35430741A>G | NCBI36 |
| NG_012345.1:g.17429A>G | |
| NG_012345.2:g.17429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360694.8:c.-102+7836A>G MANE Select | ENSP00000353916.3:n.-102+7836A>G | |
| ENST00000311565.4:c.-198+7836A>G | ENSP00000310928.4:n.-198+7836A>G | |
| ENST00000337400.6:c.-198+7836A>G | ENSP00000337063.2:n.-198+7836A>G | |
| ENST00000360694.7:c.-102+7836A>G | ENSP00000353916.3:n.-102+7836A>G | |
| ENST00000418635.6:c.-102+7836A>G | ENSP00000413314.2:n.-102+7836A>G | |
| ENST00000448077.6:c.13+7836A>G | ENSP00000414372.2:n.13+7836A>G | |
| NM_001171818.1:c.-198+7836A>G | NP_001165289.1:n.-198+7836A>G | |
| NM_001171819.1:c.13+7836A>G | NP_001165290.1:n.13+7836A>G | |
| NM_001171820.1:c.-102+7836A>G | NP_001165291.1:n.-102+7836A>G | |
| NM_006238.4:c.-102+7836A>G | NP_006229.1:n.-102+7836A>G | |
| NM_177435.2:c.-102+7836A>G | NP_803184.1:n.-102+7836A>G | |
| XM_005249193.1:c.-102+7836A>G | XP_005249250.1:n.-102+7836A>G | |
| XM_006715120.1:c.-102+5983A>G | XP_006715183.1:n.-102+5983A>G | |
| XM_006715121.1:c.-102+5983A>G | XP_006715184.1:n.-102+5983A>G | |
| XM_006715123.1:c.-102+12305A>G | XP_006715186.1:n.-102+12305A>G | |
| XM_011514707.1:c.-102+1936A>G | XP_011513009.1:n.-102+1936A>G | |
| XM_011514708.1:c.-102+5983A>G | XP_011513010.1:n.-102+5983A>G | |
| XM_011514709.1:c.-198+5983A>G | XP_011513011.1:n.-198+5983A>G | |
| XM_011514710.1:c.-102+5983A>G | XP_011513012.1:n.-102+5983A>G | |
| XM_011514711.1:c.-102+1936A>G | XP_011513013.1:n.-102+1936A>G | |
| XM_011514712.1:c.-102+1936A>G | XP_011513014.1:n.-102+1936A>G | |
| XM_011514713.1:c.-102+1936A>G | XP_011513015.1:n.-102+1936A>G | |
| XM_017010972.1:c.-251+5983A>G | XP_016866461.1:n.-251+5983A>G | |
| XM_017010973.1:c.-327+7836A>G | XP_016866462.1:n.-327+7836A>G | |
| XM_017010974.1:c.-102+1936A>G | XP_016866463.1:n.-102+1936A>G | |
| NM_006238.5:c.-102+7836A>G MANE Select | NP_006229.1:n.-102+7836A>G | |
| NM_001171818.2:c.-198+7836A>G | NP_001165289.1:n.-198+7836A>G | |
| NM_177435.3:c.-102+7836A>G | NP_803184.1:n.-102+7836A>G | |
| NM_001171819.2:c.13+7836A>G | NP_001165290.1:n.13+7836A>G | |
| NM_001171820.2:c.-102+7836A>G | NP_001165291.1:n.-102+7836A>G |