gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44586447 (NFE)
Genomes Max Group AF
0.44586447 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24862847G>A , CM000668.2:g.24862847G>A | GRCh38 |
| NC_000006.11:g.24863075G>A , CM000668.1:g.24863075G>A | GRCh37 |
| NC_000006.10:g.24971054G>A | NCBI36 |
| NG_051606.1:g.184442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259698.9:c.565-1811C>T | ENSP00000259698.4:n.565-1811C>T | |
| ENST00000510784.8:c.667-1811C>T | ENSP00000441305.1:n.667-1811C>T | |
| ENST00000538035.6:c.565-1811C>T | ENSP00000441138.2:n.565-1811C>T | |
| ENST00000643623.1:c.565-1811C>T | ENSP00000495245.1:n.565-1811C>T | |
| ENST00000643898.2:c.652-1811C>T MANE Select | ENSP00000494268.2:n.652-1811C>T | |
| ENST00000644411.1:c.565-1811C>T | ENSP00000494904.1:n.565-1811C>T | |
| ENST00000644621.1:c.565-1811C>T | ENSP00000495914.1:n.565-1811C>T | |
| ENST00000645100.1:c.652-1811C>T | ENSP00000495879.1:n.652-1811C>T | |
| ENST00000647136.1:c.565-1811C>T | ENSP00000494150.1:n.565-1811C>T | |
| ENST00000259698.8:c.565-1811C>T | ENSP00000259698.4:n.565-1811C>T | |
| ENST00000378023.8:c.565-1811C>T | ENSP00000367262.4:n.565-1811C>T | |
| ENST00000510784.6:c.667-1811C>T | ENSP00000441305.1:n.667-1811C>T | |
| ENST00000538035.5:c.652-1811C>T | ENSP00000441138.1:n.652-1811C>T | |
| ENST00000540914.5:c.565-1811C>T | ENSP00000438425.1:n.565-1811C>T | |
| ENST00000612873.1:c.403-1811C>T | ENSP00000477857.1:n.403-1811C>T | |
| ENST00000613507.4:c.565-1811C>T | ENSP00000482957.1:n.565-1811C>T | |
| NM_001286445.1:c.652-1811C>T | NP_001273374.1:n.652-1811C>T | |
| NM_001286446.1:c.667-1811C>T | NP_001273375.1:n.667-1811C>T | |
| NM_001286447.1:c.565-1811C>T | NP_001273376.1:n.565-1811C>T | |
| NM_014722.3:c.565-1811C>T | NP_055537.2:n.565-1811C>T | |
| NM_015864.3:c.565-1811C>T | NP_056948.2:n.565-1811C>T | |
| XM_006715275.2:c.667-1811C>T | XP_006715338.1:n.667-1811C>T | |
| XM_006715277.1:c.565-1811C>T | XP_006715340.1:n.565-1811C>T | |
| XM_006715278.2:c.565-1811C>T | XP_006715341.1:n.565-1811C>T | |
| XM_006715279.1:c.565-1811C>T | XP_006715342.1:n.565-1811C>T | |
| XM_006715281.2:c.667-1811C>T | XP_006715344.1:n.667-1811C>T | |
| XM_011515007.1:c.652-1811C>T | XP_011513309.1:n.652-1811C>T | |
| XM_011515008.1:c.565-1811C>T | XP_011513310.1:n.565-1811C>T | |
| XM_011515009.1:c.565-1811C>T | XP_011513311.1:n.565-1811C>T | |
| XM_011515010.1:c.565-1811C>T | XP_011513312.1:n.565-1811C>T | |
| XM_011515011.1:c.667-1811C>T | XP_011513313.1:n.667-1811C>T | |
| XM_011515012.1:c.667-1811C>T | XP_011513314.1:n.667-1811C>T | |
| NM_001286445.2:c.652-1811C>T | NP_001273374.1:n.652-1811C>T | |
| NM_001286446.2:c.667-1811C>T | NP_001273375.1:n.667-1811C>T | |
| NM_001346031.1:c.565-1811C>T | NP_001332960.1:n.565-1811C>T | |
| NM_001346032.1:c.565-1811C>T | NP_001332961.1:n.565-1811C>T | |
| NM_014722.4:c.565-1811C>T | NP_055537.2:n.565-1811C>T | |
| XM_006715279.2:c.565-1811C>T | XP_006715342.1:n.565-1811C>T | |
| XM_006715281.3:c.667-1811C>T | XP_006715344.1:n.667-1811C>T | |
| XM_011515008.2:c.565-1811C>T | XP_011513310.1:n.565-1811C>T | |
| XM_017011523.1:c.565-1811C>T | XP_016867012.1:n.565-1811C>T | |
| XM_017011524.1:c.652-1811C>T | XP_016867013.1:n.652-1811C>T | |
| XM_017011525.1:c.565-1811C>T | XP_016867014.1:n.565-1811C>T | |
| XM_017011526.1:c.565-1811C>T | XP_016867015.1:n.565-1811C>T | |
| XM_017011527.1:c.565-1811C>T | XP_016867016.1:n.565-1811C>T | |
| XR_001743760.1:n.1023-1811C>T | ||
| NM_001286445.3:c.652-1811C>T MANE Select | NP_001273374.1:n.652-1811C>T | |
| NM_001346031.2:c.565-1811C>T | NP_001332960.1:n.565-1811C>T | |
| NM_001346032.2:c.565-1811C>T | NP_001332961.1:n.565-1811C>T | |
| NM_014722.5:c.565-1811C>T | NP_055537.2:n.565-1811C>T | |
| NM_015864.4:c.565-1811C>T | NP_056948.2:n.565-1811C>T | |
| NM_001286446.3:c.667-1811C>T | NP_001273375.1:n.667-1811C>T | |
| NM_001286447.2:c.565-1811C>T | NP_001273376.1:n.565-1811C>T | |
| NM_015864.5:c.565-1811C>T | NP_056948.2:n.565-1811C>T |