gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51621117 (AFR)
Genomes Max Group AF
0.51621117 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162091978A>G , CM000667.2:g.162091978A>G | GRCh38 |
| NC_000005.9:g.161518984A>G , CM000667.1:g.161518984A>G | GRCh37 |
| NC_000005.8:g.161451562A>G | NCBI36 |
| NG_009290.1:g.29337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.70-1850A>G | ||
| ENST00000361925.9:c.108-1850A>G | ENSP00000354651.5:n.108-1850A>G | |
| ENST00000523372.2:c.191-1850A>G | ||
| ENST00000638552.1:c.-178-1850A>G | ENSP00000491763.1:n.-178-1850A>G | |
| ENST00000638660.1:c.-178-1850A>G | ENSP00000492869.1:n.-178-1850A>G | |
| ENST00000638772.1:c.108-1850A>G | ENSP00000491557.1:n.108-1850A>G | |
| ENST00000638782.1:n.170-1850A>G | ||
| ENST00000638877.1:c.47-1850A>G | ||
| ENST00000639046.1:c.23-11911A>G | ENSP00000492659.1:n.23-11911A>G | |
| ENST00000639111.2:c.108-1850A>G | ENSP00000492125.2:n.108-1850A>G | |
| ENST00000639213.2:c.108-1850A>G MANE Select | ENSP00000491909.2:n.108-1850A>G | |
| ENST00000639278.1:c.36-1850A>G | ENSP00000491958.1:n.36-1850A>G | |
| ENST00000639384.1:c.108-1850A>G | ENSP00000491240.1:n.108-1850A>G | |
| ENST00000639424.1:c.107+23872A>G | ENSP00000491245.1:n.107+23872A>G | |
| ENST00000639549.1:n.332-1850A>G | ||
| ENST00000639554.1:n.68-1850A>G | ||
| ENST00000639683.1:c.42-1850A>G | ENSP00000492581.1:n.42-1850A>G | |
| ENST00000639975.1:c.42-1850A>G | ENSP00000492096.1:n.42-1850A>G | |
| ENST00000640574.1:c.-178-1850A>G | ENSP00000491582.1:n.-178-1850A>G | |
| ENST00000640739.1:n.68-1850A>G | ||
| ENST00000640757.1:c.114-1850A>G | ENSP00000492329.1:n.114-1850A>G | |
| ENST00000640910.1:c.70-11911A>G | ||
| ENST00000640985.1:c.21-1850A>G | ENSP00000492293.1:n.21-1850A>G | |
| ENST00000641017.1:c.108-1850A>G | ENSP00000493461.1:n.108-1850A>G | |
| ENST00000356592.7:c.108-1850A>G | ENSP00000349000.3:n.108-1850A>G | |
| ENST00000361925.8:c.108-1850A>G | ENSP00000354651.4:n.108-1850A>G | |
| ENST00000414552.6:c.108-1850A>G | ENSP00000410732.2:n.108-1850A>G | |
| ENST00000522990.5:c.108-1850A>G | ENSP00000430732.1:n.108-1850A>G | |
| ENST00000523372.1:c.229-1850A>G | ENSP00000430124.1:n.229-1850A>G | |
| NM_000816.3:c.108-1850A>G | NP_000807.2:n.108-1850A>G | |
| NM_198903.2:c.108-1850A>G | NP_944493.2:n.108-1850A>G | |
| NM_198904.2:c.108-1850A>G | NP_944494.1:n.108-1850A>G | |
| NM_001375339.1:c.108-1859A>G | NP_001362268.1:n.108-1859A>G | |
| NM_001375340.1:c.108-1850A>G | NP_001362269.1:n.108-1850A>G | |
| NM_001375341.1:c.108-1850A>G | NP_001362270.1:n.108-1850A>G | |
| NM_001375342.1:c.108-1850A>G | NP_001362271.1:n.108-1850A>G | |
| NM_001375343.1:c.108-1850A>G | NP_001362272.1:n.108-1850A>G | |
| NM_001375344.1:c.108-1850A>G | NP_001362273.1:n.108-1850A>G | |
| NM_001375345.1:c.42-1850A>G | NP_001362274.1:n.42-1850A>G | |
| NM_001375346.1:c.42-1850A>G | NP_001362275.1:n.42-1850A>G | |
| NM_001375347.1:c.21-1850A>G | NP_001362276.1:n.21-1850A>G | |
| NM_001375348.1:c.-251-1850A>G | NP_001362277.1:n.-251-1850A>G | |
| NM_001375349.1:c.-178-1850A>G | NP_001362278.1:n.-178-1850A>G | |
| NM_001375350.1:c.-251-1850A>G | NP_001362279.1:n.-251-1850A>G | |
| NM_198904.3:c.108-1850A>G | NP_944494.1:n.108-1850A>G | |
| NM_198904.4:c.108-1850A>G MANE Select | NP_944494.1:n.108-1850A>G |