Revel Score:
ENST00000372221
0.323
ENST00000415075
0.323
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017675 (AFR)
Genomes Max Group AF
0.00013044 (AFR)
Exomes Max Group AF
0.00016125 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131511472G>A , CM000671.2:g.131511472G>A | GRCh38 |
| NC_000009.11:g.134386859G>A , CM000671.1:g.134386859G>A | GRCh37 |
| NC_000009.10:g.133376680G>A | NCBI36 |
| NG_008896.1:g.13571G>A | |
| NG_008896.2:g.13571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.824+5G>A | ENSP00000343034.7:n.824+5G>A | |
| ENST00000404875.7:n.1358+5G>A | ||
| ENST00000423007.6:c.1043+5G>A | ENSP00000404119.2:n.1043+5G>A | |
| ENST00000677295.2:c.*1330G>A | ENSP00000504346.2:n.*1330G>A | |
| ENST00000678264.2:c.*1169+5G>A | ENSP00000503157.2:n.*1169+5G>A | |
| ENST00000678942.2:c.*539+5G>A | ENSP00000504690.2:n.*539+5G>A | |
| ENST00000682070.1:n.1451G>A | ||
| ENST00000682813.1:n.1251+5G>A | ||
| ENST00000683392.1:n.3733+5G>A | ||
| ENST00000683712.1:n.1391G>A | ||
| ENST00000683900.1:n.2318G>A | ||
| ENST00000684062.1:n.1652+5G>A | ||
| ENST00000684579.1:n.2832G>A | ||
| ENST00000341012.12:c.824+5G>A | ENSP00000343034.7:n.824+5G>A | |
| ENST00000372220.5:c.-145-569G>A | ENSP00000361294.5:n.-145-569G>A | |
| ENST00000372228.9:c.1052+5G>A | ENSP00000361302.3:n.1052+5G>A | |
| ENST00000402686.8:c.986+5G>A MANE Select | ENSP00000385797.4:n.986+5G>A | |
| ENST00000415075.6:c.*444G>A | ENSP00000405149.2:n.*444G>A | |
| ENST00000676640.1:c.986+5G>A | ENSP00000503281.1:n.986+5G>A | |
| ENST00000676803.1:c.161+5G>A | ENSP00000503093.1:n.161+5G>A | |
| ENST00000676835.1:c.*201G>A | ENSP00000502911.1:n.*201G>A | |
| ENST00000677029.1:c.530+5G>A | ENSP00000502936.1:n.530+5G>A | |
| ENST00000677099.1:c.*696+5G>A | ENSP00000504553.1:n.*696+5G>A | |
| ENST00000677216.1:c.635+5G>A | ENSP00000503772.1:n.635+5G>A | |
| ENST00000677293.1:c.161+5G>A | ENSP00000504278.1:n.161+5G>A | |
| ENST00000677295.1:c.*363G>A | ENSP00000504346.1:n.*363G>A | |
| ENST00000677444.1:c.792+5G>A | ||
| ENST00000677586.1:n.467+5G>A | ||
| ENST00000677626.1:c.824+5G>A | ENSP00000503552.1:n.824+5G>A | |
| ENST00000677677.1:n.946+5G>A | ||
| ENST00000677853.1:c.567+5G>A | ENSP00000503488.1:n.567+5G>A | |
| ENST00000677944.1:c.248+5G>A | ||
| ENST00000678264.1:c.*363G>A | ENSP00000503157.1:n.*363G>A | |
| ENST00000678303.1:c.896+5G>A | ENSP00000503696.1:n.896+5G>A | |
| ENST00000678366.1:c.*1235+5G>A | ENSP00000504353.1:n.*1235+5G>A | |
| ENST00000678546.1:c.*363G>A | ENSP00000503062.1:n.*363G>A | |
| ENST00000678548.1:c.*1058G>A | ENSP00000503934.1:n.*1058G>A | |
| ENST00000678626.1:n.683G>A | ||
| ENST00000678733.1:c.160+5G>A | ||
| ENST00000678739.1:c.*1312G>A | ENSP00000503806.1:n.*1312G>A | |
| ENST00000678833.1:c.*433+5G>A | ENSP00000503893.1:n.*433+5G>A | |
| ENST00000678942.1:c.166G>A | ENSP00000504690.1:n.166G>A | |
| ENST00000679023.1:c.824+5G>A | ENSP00000503718.1:n.824+5G>A | |
| ENST00000679073.1:c.364+5G>A | ENSP00000504356.1:n.364+5G>A | |
| ENST00000679076.1:c.605G>A | ||
| ENST00000679111.1:c.986+5G>A | ENSP00000504257.1:n.986+5G>A | |
| ENST00000679189.1:c.635+5G>A | ENSP00000503356.1:n.635+5G>A | |
| ENST00000341012.11:c.824+5G>A | ENSP00000343034.7:n.824+5G>A | |
| ENST00000372228.7:c.1052+5G>A | ENSP00000361302.3:n.1052+5G>A | |
| ENST00000402686.7:c.986+5G>A | ENSP00000385797.3:n.986+5G>A | |
| ENST00000404875.6:c.635+5G>A | ENSP00000384531.2:n.635+5G>A | |
| ENST00000415075.5:c.383G>A | ENSP00000405149.1:p.Arg128Lys | |
| ENST00000423007.5:c.986+5G>A | ENSP00000404119.1:n.986+5G>A | |
| ENST00000441334.5:c.701+5G>A | ENSP00000395060.1:n.701+5G>A | |
| ENST00000462375.5:n.812G>A | ||
| ENST00000485278.5:n.973G>A | ||
| NM_001077365.1:c.986+5G>A | NP_001070833.1:n.986+5G>A | |
| NM_001077366.1:c.824+5G>A | NP_001070834.1:n.824+5G>A | |
| NM_001136113.1:c.986+5G>A | NP_001129585.1:n.986+5G>A | |
| NM_001136114.1:c.635+5G>A | NP_001129586.1:n.635+5G>A | |
| NM_007171.3:c.1052+5G>A | NP_009102.3:n.1052+5G>A | |
| XM_005272156.1:c.1052+5G>A | XP_005272213.1:n.1052+5G>A | |
| XM_005272158.1:c.890+5G>A | XP_005272215.1:n.890+5G>A | |
| XM_005272159.1:c.701+5G>A | XP_005272216.1:n.701+5G>A | |
| XM_005272162.1:c.-146G>A | XP_005272219.1:n.-146G>A | |
| XM_006716932.1:c.701+5G>A | XP_006716995.1:n.701+5G>A | |
| XM_011518140.1:c.905+5G>A | XP_011516442.1:n.905+5G>A | |
| XM_011518141.1:c.839+5G>A | XP_011516443.1:n.839+5G>A | |
| XM_011518142.1:c.743+5G>A | XP_011516444.1:n.743+5G>A | |
| XM_011518143.1:c.737G>A | XP_011516445.1:p.Arg246Lys | |
| XM_011518144.1:c.1052+5G>A | XP_011516446.1:n.1052+5G>A | |
| XM_011518145.1:c.596+5G>A | XP_011516447.1:n.596+5G>A | |
| XM_011518146.1:c.737G>A | XP_011516448.1:p.Arg246Lys | |
| XR_929703.1:n.1228+5G>A | ||
| NM_001353193.1:c.1052+5G>A | NP_001340122.1:n.1052+5G>A | |
| NM_001353194.1:c.824+5G>A | NP_001340123.1:n.824+5G>A | |
| NM_001353195.1:c.635+5G>A | NP_001340124.1:n.635+5G>A | |
| NM_001353196.1:c.896+5G>A | NP_001340125.1:n.896+5G>A | |
| NM_001353197.1:c.890+5G>A | NP_001340126.1:n.890+5G>A | |
| NM_001353198.1:c.890+5G>A | NP_001340127.1:n.890+5G>A | |
| NM_001353199.1:c.701+5G>A | NP_001340128.1:n.701+5G>A | |
| NM_001353200.1:c.530+5G>A | NP_001340129.1:n.530+5G>A | |
| NR_148391.1:n.1036+5G>A | ||
| NR_148392.1:n.1254+5G>A | ||
| NR_148393.1:n.1036+5G>A | ||
| NR_148394.1:n.929G>A | ||
| NR_148395.1:n.1188+5G>A | ||
| NR_148396.1:n.822G>A | ||
| NR_148397.1:n.1086G>A | ||
| NR_148398.1:n.1041G>A | ||
| NR_148399.1:n.1428+5G>A | ||
| NR_148400.1:n.1027G>A | ||
| XM_005272162.3:c.-146G>A | XP_005272219.1:n.-146G>A | |
| XM_006716932.2:c.701+5G>A | XP_006716995.1:n.701+5G>A | |
| XM_011518140.2:c.905+5G>A | XP_011516442.1:n.905+5G>A | |
| XM_011518141.2:c.839+5G>A | XP_011516443.1:n.839+5G>A | |
| XM_011518142.2:c.743+5G>A | XP_011516444.1:n.743+5G>A | |
| XM_011518143.2:c.737G>A | XP_011516445.1:p.Arg246Lys | |
| XM_011518145.2:c.596+5G>A | XP_011516447.1:n.596+5G>A | |
| XM_017014205.2:c.-146G>A | XP_016869694.1:n.-146G>A | |
| XM_024447380.1:c.-146G>A | XP_024303148.1:n.-146G>A | |
| XM_024447381.1:c.161+5G>A | XP_024303149.1:n.161+5G>A | |
| XM_024447382.1:c.-146G>A | XP_024303150.1:n.-146G>A | |
| XR_001746160.2:n.1156+5G>A | ||
| XR_001746162.2:n.1222+5G>A | ||
| XR_001746164.1:n.939G>A | ||
| XR_001746166.2:n.1373+5G>A | ||
| NM_001077365.2:c.986+5G>A MANE Select | NP_001070833.1:n.986+5G>A | |
| NM_001077366.2:c.824+5G>A | NP_001070834.1:n.824+5G>A | |
| NM_001136113.2:c.986+5G>A | NP_001129585.1:n.986+5G>A | |
| NM_001136114.2:c.635+5G>A | NP_001129586.1:n.635+5G>A | |
| NM_001353193.2:c.1052+5G>A | NP_001340122.2:n.1052+5G>A | |
| NM_001353194.2:c.824+5G>A | NP_001340123.1:n.824+5G>A | |
| NM_001353195.2:c.635+5G>A | NP_001340124.1:n.635+5G>A | |
| NM_001353196.2:c.896+5G>A | NP_001340125.1:n.896+5G>A | |
| NM_001353197.2:c.890+5G>A | NP_001340126.2:n.890+5G>A | |
| NM_001353198.2:c.890+5G>A | NP_001340127.2:n.890+5G>A | |
| NM_001353199.2:c.701+5G>A | NP_001340128.2:n.701+5G>A | |
| NM_001353200.2:c.530+5G>A | NP_001340129.1:n.530+5G>A | |
| NM_001374689.1:c.974G>A | NP_001361618.1:p.Arg325Lys | |
| NM_001374690.1:c.986+5G>A | NP_001361619.1:n.986+5G>A | |
| NM_001374691.1:c.635+5G>A | NP_001361620.1:n.635+5G>A | |
| NM_001374692.1:c.635+5G>A | NP_001361621.1:n.635+5G>A | |
| NM_001374693.1:c.824+5G>A | NP_001361622.1:n.824+5G>A | |
| NM_001374695.1:c.596+5G>A | NP_001361624.1:n.596+5G>A | |
| NM_007171.4:c.1052+5G>A | NP_009102.4:n.1052+5G>A | |
| NR_148391.2:n.1020+5G>A | ||
| NR_148392.2:n.1238+5G>A | ||
| NR_148393.2:n.1020+5G>A | ||
| NR_148394.2:n.913G>A | ||
| NR_148395.2:n.1172+5G>A | ||
| NR_148396.2:n.806G>A | ||
| NR_148397.2:n.1070G>A | ||
| NR_148398.2:n.1025G>A | ||
| NR_148399.2:n.1412+5G>A | ||
| NR_148400.2:n.1011G>A |