gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06607378 (NFE)
Genomes Max Group AF
0.06607378 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35549410G>A , CM000663.2:g.35549410G>A | GRCh38 |
| NC_000001.10:g.36015011G>A , CM000663.1:g.36015011G>A | GRCh37 |
| NC_000001.9:g.35787598G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426982.7:c.142+4940C>T | ENSP00000395883.3:n.142+4940C>T | |
| ENST00000461312.6:c.142+4940C>T | ENSP00000513058.1:n.142+4940C>T | |
| ENST00000469892.6:c.142+4940C>T | ENSP00000419396.2:n.142+4940C>T | |
| ENST00000697000.1:c.142+4940C>T | ENSP00000513030.1:n.142+4940C>T | |
| ENST00000697001.1:c.142+4940C>T | ENSP00000513031.1:n.142+4940C>T | |
| ENST00000697002.1:c.142+4940C>T | ENSP00000513032.1:n.142+4940C>T | |
| ENST00000697003.1:c.142+4940C>T | ENSP00000513033.1:n.142+4940C>T | |
| ENST00000697004.1:c.142+4940C>T | ENSP00000513034.1:n.142+4940C>T | |
| ENST00000697005.1:c.142+4940C>T | ENSP00000513035.1:n.142+4940C>T | |
| ENST00000697006.1:c.142+4940C>T | ENSP00000513036.1:n.142+4940C>T | |
| ENST00000697007.1:c.142+4940C>T | ENSP00000513037.1:n.142+4940C>T | |
| ENST00000697008.1:c.142+4940C>T | ENSP00000513038.1:n.142+4940C>T | |
| ENST00000697009.1:c.142+4940C>T | ENSP00000513039.1:n.142+4940C>T | |
| ENST00000697010.1:c.142+4940C>T | ENSP00000513040.1:n.142+4940C>T | |
| ENST00000697011.1:c.142+4940C>T | ENSP00000513041.1:n.142+4940C>T | |
| ENST00000697012.1:c.142+4940C>T | ENSP00000513042.1:n.142+4940C>T | |
| ENST00000697013.1:c.142+4940C>T | ENSP00000513043.1:n.142+4940C>T | |
| ENST00000697014.1:c.142+4940C>T | ENSP00000513044.1:n.142+4940C>T | |
| ENST00000697015.1:c.142+4940C>T | ENSP00000513045.1:n.142+4940C>T | |
| ENST00000697016.1:c.142+4940C>T | ENSP00000513046.1:n.142+4940C>T | |
| ENST00000697017.1:c.142+4940C>T | ENSP00000513047.1:n.142+4940C>T | |
| ENST00000697018.1:c.142+4940C>T | ENSP00000513048.1:n.142+4940C>T | |
| ENST00000697019.1:c.142+4940C>T | ENSP00000513049.1:n.142+4940C>T | |
| ENST00000697020.1:c.142+4940C>T | ENSP00000513050.1:n.142+4940C>T | |
| ENST00000697021.1:c.142+4940C>T | ENSP00000513051.1:n.142+4940C>T | |
| ENST00000697022.1:c.142+4940C>T | ENSP00000513052.1:n.142+4940C>T | |
| ENST00000697023.1:c.142+4940C>T | ENSP00000513053.1:n.142+4940C>T | |
| ENST00000697024.1:c.142+4940C>T | ENSP00000513054.1:n.142+4940C>T | |
| ENST00000697025.1:c.142+4940C>T | ENSP00000513055.1:n.142+4940C>T | |
| ENST00000697026.1:n.380+4940C>T | ||
| ENST00000697027.1:c.142+4940C>T | ENSP00000513056.1:n.142+4940C>T | |
| ENST00000697028.1:c.142+4940C>T | ENSP00000513057.1:n.142+4940C>T | |
| ENST00000697030.1:n.376+4940C>T | ||
| ENST00000697031.1:n.364+4940C>T | ||
| ENST00000697032.1:n.161+4940C>T | ||
| ENST00000697033.1:n.354+4940C>T | ||
| ENST00000697034.1:n.130+4940C>T | ||
| ENST00000325722.8:c.142+4940C>T MANE Select | ENSP00000318406.3:n.142+4940C>T | |
| ENST00000325722.7:c.142+4940C>T | ENSP00000318406.3:n.142+4940C>T | |
| ENST00000426982.6:c.142+4940C>T | ENSP00000395883.2:n.142+4940C>T | |
| ENST00000440579.5:c.142+4940C>T | ENSP00000407576.1:n.142+4940C>T | |
| ENST00000469892.5:c.142+4940C>T | ENSP00000419396.1:n.142+4940C>T | |
| ENST00000470388.5:c.142+4940C>T | ENSP00000417411.1:n.142+4940C>T | |
| ENST00000476329.1:n.224+4940C>T | ||
| ENST00000478463.6:c.142+4940C>T | ENSP00000420369.1:n.142+4940C>T | |
| ENST00000482929.6:c.142+4940C>T | ENSP00000420742.2:n.142+4940C>T | |
| ENST00000492888.1:n.63+8140C>T | ||
| ENST00000494948.1:c.142+4940C>T | ENSP00000420226.1:n.142+4940C>T | |
| NM_024874.4:c.142+4940C>T | NP_079150.3:n.142+4940C>T | |
| XM_006710907.1:c.142+4940C>T | XP_006710970.1:n.142+4940C>T | |
| XM_006710909.1:c.142+4940C>T | XP_006710972.1:n.142+4940C>T | |
| XM_006710910.1:c.-409+4940C>T | XP_006710973.1:n.-409+4940C>T | |
| XM_011542179.1:c.142+4940C>T | XP_011540481.1:n.142+4940C>T | |
| XM_011542180.1:c.142+4940C>T | XP_011540482.1:n.142+4940C>T | |
| XM_011542181.1:c.142+4940C>T | XP_011540483.1:n.142+4940C>T | |
| XM_011542182.1:c.142+4940C>T | XP_011540484.1:n.142+4940C>T | |
| XR_246296.1:n.369+4940C>T | ||
| XR_946763.1:n.369+4940C>T | ||
| XM_006710909.2:c.142+4940C>T | XP_006710972.1:n.142+4940C>T | |
| XM_011542179.2:c.142+4940C>T | XP_011540481.1:n.142+4940C>T | |
| XM_017002366.1:c.142+4940C>T | XP_016857855.1:n.142+4940C>T | |
| XM_017002367.1:c.142+4940C>T | XP_016857856.1:n.142+4940C>T | |
| XM_017002368.1:c.142+4940C>T | XP_016857857.1:n.142+4940C>T | |
| XM_017002369.2:c.142+4940C>T | XP_016857858.1:n.142+4940C>T | |
| XM_017002370.1:c.142+4940C>T | XP_016857859.1:n.142+4940C>T | |
| XM_017002371.1:c.142+4940C>T | XP_016857860.1:n.142+4940C>T | |
| XM_017002372.2:c.142+4940C>T | XP_016857861.1:n.142+4940C>T | |
| XM_017002373.2:c.142+4940C>T | XP_016857862.1:n.142+4940C>T | |
| XM_017002374.1:c.-409+4940C>T | XP_016857863.1:n.-409+4940C>T | |
| XM_017002377.1:c.-409+4940C>T | XP_016857866.1:n.-409+4940C>T | |
| XR_001737420.1:n.369+4940C>T | ||
| XR_001737421.1:n.369+4940C>T | ||
| XR_001737423.1:n.369+4940C>T | ||
| XR_001737424.1:n.369+4940C>T | ||
| XR_001737425.1:n.369+4940C>T | ||
| XR_001737426.1:n.199+4940C>T | ||
| XR_002957627.1:n.369+4940C>T | ||
| XR_946763.2:n.369+4940C>T | ||
| NM_024874.5:c.142+4940C>T MANE Select | NP_079150.3:n.142+4940C>T |