dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35516181 (NFE)
Genomes Max Group AF
0.35737517 (NFE)
Exomes Max Group AF
0.33845378 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45729946C>T , CM000680.2:g.45729946C>T | GRCh38 |
| NC_000018.9:g.43309911C>T , CM000680.1:g.43309911C>T | GRCh37 |
| NC_000018.8:g.41563909C>T | NCBI36 |
| NG_011775.3:g.10820C>T | |
| NG_011775.4:g.47922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321925.9:c.-21-354C>T MANE Select | ENSP00000318546.4:n.-21-354C>T | |
| ENST00000502059.7:c.147+2528C>T | ENSP00000442180.2:n.147+2528C>T | |
| ENST00000586951.6:c.-21-354C>T | ENSP00000465702.2:n.-21-354C>T | |
| ENST00000588179.6:c.148-354C>T | ENSP00000467898.2:n.148-354C>T | |
| ENST00000589322.7:c.-55-4328C>T | ENSP00000466273.3:n.-55-4328C>T | |
| ENST00000590246.6:c.-164-1069C>T | ENSP00000468763.2:n.-164-1069C>T | |
| ENST00000321925.8:c.-21-354C>T | ENSP00000318546.4:n.-21-354C>T | |
| ENST00000402943.6:c.-164-1069C>T | ENSP00000385320.2:n.-164-1069C>T | |
| ENST00000415427.7:c.148-354C>T | ENSP00000412309.2:n.148-354C>T | |
| ENST00000436407.7:c.148-354C>T | ENSP00000390637.2:n.148-354C>T | |
| ENST00000502059.6:c.17+2528C>T | ENSP00000442180.1:n.17+2528C>T | |
| ENST00000535474.5:c.-55-4328C>T | ENSP00000441998.1:n.-55-4328C>T | |
| ENST00000586056.5:c.-21-354C>T | ENSP00000470055.1:n.-21-354C>T | |
| ENST00000586142.5:c.-375C>T | ENSP00000470476.1:n.-375C>T | |
| ENST00000586951.5:c.-21-354C>T | ENSP00000465702.1:n.-21-354C>T | |
| ENST00000587601.5:c.-299-40C>T | ENSP00000465029.1:n.-299-40C>T | |
| ENST00000588179.5:c.148-354C>T | ENSP00000467898.2:n.148-354C>T | |
| ENST00000589322.6:c.-55-4328C>T | ENSP00000466273.2:n.-55-4328C>T | |
| ENST00000589891.1:c.148-354C>T | ENSP00000466093.1:n.148-354C>T | |
| ENST00000590246.5:c.-164-1069C>T | ENSP00000468763.1:n.-164-1069C>T | |
| ENST00000591943.1:n.46-354C>T | ||
| ENST00000619403.4:c.-21-354C>T | ENSP00000479595.1:n.-21-354C>T | |
| NM_001128588.3:c.148-354C>T | NP_001122060.3:n.148-354C>T | |
| NM_001146036.2:c.-21-354C>T | NP_001139508.2:n.-21-354C>T | |
| NM_001146037.1:c.148-354C>T | NP_001139509.1:n.148-354C>T | |
| NM_001308278.1:c.-164-1069C>T | NP_001295207.1:n.-164-1069C>T | |
| NM_001308279.1:c.-55-4328C>T | NP_001295208.1:n.-55-4328C>T | |
| NM_015865.6:c.-21-354C>T | NP_056949.4:n.-21-354C>T | |
| XM_005258329.1:c.148-354C>T | XP_005258386.1:n.148-354C>T | |
| XM_005258333.1:c.-55-4328C>T | XP_005258390.1:n.-55-4328C>T | |
| XM_006722526.2:c.-51-40C>T | XP_006722589.1:n.-51-40C>T | |
| XM_011526141.1:c.-91C>T | XP_011524443.1:n.-91C>T | |
| XM_011526142.1:c.-51-40C>T | XP_011524444.1:n.-51-40C>T | |
| XM_011526143.1:c.148-354C>T | XP_011524445.1:n.148-354C>T | |
| XM_011526144.1:c.148-354C>T | XP_011524446.1:n.148-354C>T | |
| NM_015865.7:c.-21-354C>T MANE Select | NP_056949.4:n.-21-354C>T | |
| XM_006722526.3:c.-51-40C>T | XP_006722589.1:n.-51-40C>T | |
| XM_024451238.1:c.-21-354C>T | XP_024307006.1:n.-21-354C>T | |
| XR_001753266.1:n.346-354C>T | ||
| XR_935423.2:n.826+7520G>A | ||
| NM_001128588.4:c.148-354C>T | NP_001122060.3:n.148-354C>T | |
| NM_001146036.3:c.-21-354C>T | NP_001139508.2:n.-21-354C>T | |
| NM_001308278.2:c.-164-1069C>T | NP_001295207.1:n.-164-1069C>T | |
| NM_001308279.2:c.-55-4328C>T | NP_001295208.1:n.-55-4328C>T |