gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6800274 (NFE)
Genomes Max Group AF
0.67994041 (NFE)
Exomes Max Group AF
0.65238098 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1101493A>G , CM000666.2:g.1101493A>G | GRCh38 |
| NC_000004.11:g.1095281A>G , CM000666.1:g.1095281A>G | GRCh37 |
| NC_000004.10:g.1085281A>G | NCBI36 |
| NG_027812.1:g.17072T>C | |
| NG_027812.2:g.17302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698262.1:c.172-4654T>C | ENSP00000513634.1:n.172-4654T>C | |
| ENST00000433731.7:c.172-4654T>C MANE Select | ENSP00000389709.2:n.172-4654T>C | |
| ENST00000333673.5:c.172-4654T>C | ENSP00000327481.5:n.172-4654T>C | |
| ENST00000382968.9:c.172-4654T>C | ENSP00000372428.5:n.172-4654T>C | |
| ENST00000433731.6:c.172-4654T>C | ENSP00000389709.2:n.172-4654T>C | |
| ENST00000454487.6:n.255-4654T>C | ||
| ENST00000505730.1:n.332-424T>C | ||
| ENST00000506730.5:c.110-4654T>C | ENSP00000425843.1:n.110-4654T>C | |
| ENST00000508428.5:c.110-4654T>C | ENSP00000423030.1:n.110-4654T>C | |
| ENST00000510715.5:c.172-1566T>C | ENSP00000423560.1:n.172-1566T>C | |
| ENST00000511620.5:c.172-4654T>C | ENSP00000426115.1:n.172-4654T>C | |
| ENST00000513176.2:n.66T>C | ||
| NM_001131034.3:c.172-4654T>C | NP_001124506.1:n.172-4654T>C | |
| NM_001193318.2:c.172-4654T>C | NP_001180247.1:n.172-4654T>C | |
| NM_194439.4:c.172-4654T>C | NP_919420.1:n.172-4654T>C | |
| XM_005272274.2:c.172-4654T>C | XP_005272331.1:n.172-4654T>C | |
| XM_011513438.1:c.-173-1566T>C | XP_011511740.1:n.-173-1566T>C | |
| XM_011513439.1:c.-173-1566T>C | XP_011511741.1:n.-173-1566T>C | |
| XM_011513440.1:c.172-4654T>C | XP_011511742.1:n.172-4654T>C | |
| XM_011513441.1:c.172-4654T>C | XP_011511743.1:n.172-4654T>C | |
| XM_011513442.1:c.-27-4654T>C | XP_011511744.1:n.-27-4654T>C | |
| XM_011513443.1:c.-27-4654T>C | XP_011511745.1:n.-27-4654T>C | |
| XM_011513444.1:c.172-4654T>C | XP_011511746.1:n.172-4654T>C | |
| XM_011513445.1:c.172-4654T>C | XP_011511747.1:n.172-4654T>C | |
| XM_011513446.1:c.172-4654T>C | XP_011511748.1:n.172-4654T>C | |
| XR_246609.2:n.273-4654T>C | ||
| XR_924933.1:n.270-4654T>C | ||
| XR_924936.1:n.270-4654T>C | ||
| XR_924937.1:n.270-4654T>C | ||
| NM_001366918.1:c.172-4654T>C | NP_001353847.1:n.172-4654T>C | |
| NM_001366919.1:c.172-4654T>C | NP_001353848.1:n.172-4654T>C | |
| NR_159497.1:n.272-4654T>C | ||
| NR_159498.1:n.272-4654T>C | ||
| NR_159499.1:n.210-4654T>C | ||
| NR_159500.1:n.210-1566T>C | ||
| NR_159501.1:n.272-1566T>C | ||
| NR_159502.1:n.272-4654T>C | ||
| NR_159503.1:n.210-4654T>C | ||
| NR_159504.1:n.210-4654T>C | ||
| NR_159505.1:n.210-4654T>C | ||
| XM_011513445.2:c.172-4654T>C | XP_011511747.1:n.172-4654T>C | |
| XM_017008039.1:c.-173-1566T>C | XP_016863528.1:n.-173-1566T>C | |
| XM_017008040.1:c.-173-1566T>C | XP_016863529.1:n.-173-1566T>C | |
| XM_017008041.1:c.172-4654T>C | XP_016863530.1:n.172-4654T>C | |
| XR_001741208.1:n.270-4654T>C | ||
| XR_002959724.1:n.270-4654T>C | ||
| NM_001131034.4:c.172-4654T>C MANE Select | NP_001124506.1:n.172-4654T>C | |
| NM_001193318.3:c.172-4654T>C | NP_001180247.1:n.172-4654T>C | |
| NM_194439.5:c.172-4654T>C | NP_919420.1:n.172-4654T>C |