Revel Score:
ENST00000423007
0.933
ENST00000404875
0.933
ENST00000341012
0.933
ENST00000441334
0.933
ENST00000372228
0.933
ENST00000402686 (MANE Select)
0.933
ENST00000419118
0.933
ENST00000541219
0.933
ENST00000354713
0.933
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131511458A>G , CM000671.2:g.131511458A>G | GRCh38 |
| NC_000009.11:g.134386845A>G , CM000671.1:g.134386845A>G | GRCh37 |
| NC_000009.10:g.133376666A>G | NCBI36 |
| NG_008896.1:g.13557A>G | |
| NG_008896.2:g.13557A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.815A>G | ENSP00000343034.7:p.Tyr272Cys | |
| ENST00000404875.7:n.1349A>G | ||
| ENST00000423007.6:c.1034A>G | ENSP00000404119.2:p.Tyr345Cys | |
| ENST00000677295.2:c.*1316A>G | ENSP00000504346.2:n.*1316A>G | |
| ENST00000678264.2:c.*1160A>G | ENSP00000503157.2:n.*1160A>G | |
| ENST00000678942.2:c.*530A>G | ENSP00000504690.2:n.*530A>G | |
| ENST00000682070.1:n.1437A>G | ||
| ENST00000682813.1:n.1242A>G | ||
| ENST00000683134.1:c.344A>G | ||
| ENST00000683392.1:n.3724A>G | ||
| ENST00000683712.1:n.1377A>G | ||
| ENST00000683900.1:n.2304A>G | ||
| ENST00000684062.1:n.1643A>G | ||
| ENST00000684579.1:n.2818A>G | ||
| ENST00000341012.12:c.815A>G | ENSP00000343034.7:p.Tyr272Cys | |
| ENST00000372220.5:c.-145-583A>G | ENSP00000361294.5:n.-145-583A>G | |
| ENST00000372228.9:c.1043A>G | ENSP00000361302.3:p.Tyr348Cys | |
| ENST00000402686.8:c.977A>G MANE Select | ENSP00000385797.4:p.Tyr326Cys | |
| ENST00000415075.6:c.*430A>G | ENSP00000405149.2:n.*430A>G | |
| ENST00000676640.1:c.977A>G | ENSP00000503281.1:p.Tyr326Cys | |
| ENST00000676803.1:c.152A>G | ENSP00000503093.1:p.Tyr51Cys | |
| ENST00000676835.1:c.*187A>G | ENSP00000502911.1:n.*187A>G | |
| ENST00000677029.1:c.521A>G | ENSP00000502936.1:p.Tyr174Cys | |
| ENST00000677099.1:c.*687A>G | ENSP00000504553.1:n.*687A>G | |
| ENST00000677216.1:c.626A>G | ENSP00000503772.1:p.Tyr209Cys | |
| ENST00000677293.1:c.152A>G | ENSP00000504278.1:p.Tyr51Cys | |
| ENST00000677295.1:c.*349A>G | ENSP00000504346.1:n.*349A>G | |
| ENST00000677444.1:c.783A>G | ||
| ENST00000677586.1:n.458A>G | ||
| ENST00000677626.1:c.815A>G | ENSP00000503552.1:p.Tyr272Cys | |
| ENST00000677677.1:n.937A>G | ||
| ENST00000677853.1:c.558A>G | ENSP00000503488.1:p.Leu186= | |
| ENST00000677944.1:c.239A>G | ||
| ENST00000678264.1:c.*349A>G | ENSP00000503157.1:n.*349A>G | |
| ENST00000678303.1:c.887A>G | ENSP00000503696.1:p.Tyr296Cys | |
| ENST00000678366.1:c.*1226A>G | ENSP00000504353.1:n.*1226A>G | |
| ENST00000678546.1:c.*349A>G | ENSP00000503062.1:n.*349A>G | |
| ENST00000678548.1:c.*1044A>G | ENSP00000503934.1:n.*1044A>G | |
| ENST00000678626.1:n.669A>G | ||
| ENST00000678733.1:c.151A>G | ||
| ENST00000678739.1:c.*1298A>G | ENSP00000503806.1:n.*1298A>G | |
| ENST00000678833.1:c.*424A>G | ENSP00000503893.1:n.*424A>G | |
| ENST00000678942.1:c.152A>G | ENSP00000504690.1:p.Tyr51Cys | |
| ENST00000679023.1:c.815A>G | ENSP00000503718.1:p.Tyr272Cys | |
| ENST00000679073.1:c.355A>G | ENSP00000504356.1:n.355A>G | |
| ENST00000679076.1:c.591A>G | ||
| ENST00000679111.1:c.977A>G | ENSP00000504257.1:p.Tyr326Cys | |
| ENST00000679189.1:c.626A>G | ENSP00000503356.1:p.Tyr209Cys | |
| ENST00000341012.11:c.815A>G | ENSP00000343034.7:p.Tyr272Cys | |
| ENST00000372228.7:c.1043A>G | ENSP00000361302.3:p.Tyr348Cys | |
| ENST00000402686.7:c.977A>G | ENSP00000385797.3:p.Tyr326Cys | |
| ENST00000404875.6:c.626A>G | ENSP00000384531.2:p.Tyr209Cys | |
| ENST00000415075.5:c.369A>G | ENSP00000405149.1:p.Leu123= | |
| ENST00000423007.5:c.977A>G | ENSP00000404119.1:p.Tyr326Cys | |
| ENST00000441334.5:c.692A>G | ENSP00000395060.1:p.Tyr231Cys | |
| ENST00000462375.5:n.798A>G | ||
| ENST00000485278.5:n.959A>G | ||
| NM_001077365.1:c.977A>G | NP_001070833.1:p.Tyr326Cys | |
| NM_001077366.1:c.815A>G | NP_001070834.1:p.Tyr272Cys | |
| NM_001136113.1:c.977A>G | NP_001129585.1:p.Tyr326Cys | |
| NM_001136114.1:c.626A>G | NP_001129586.1:p.Tyr209Cys | |
| NM_007171.3:c.1043A>G | NP_009102.3:p.Tyr348Cys | |
| XM_005272156.1:c.1043A>G | XP_005272213.1:p.Tyr348Cys | |
| XM_005272158.1:c.881A>G | XP_005272215.1:p.Tyr294Cys | |
| XM_005272159.1:c.692A>G | XP_005272216.1:p.Tyr231Cys | |
| XM_005272162.1:c.-160A>G | XP_005272219.1:n.-160A>G | |
| XM_006716932.1:c.692A>G | XP_006716995.1:p.Tyr231Cys | |
| XM_011518140.1:c.896A>G | XP_011516442.1:p.Tyr299Cys | |
| XM_011518141.1:c.830A>G | XP_011516443.1:p.Tyr277Cys | |
| XM_011518142.1:c.734A>G | XP_011516444.1:p.Tyr245Cys | |
| XM_011518143.1:c.723A>G | XP_011516445.1:p.Leu241= | |
| XM_011518144.1:c.1043A>G | XP_011516446.1:p.Tyr348Cys | |
| XM_011518145.1:c.587A>G | XP_011516447.1:p.Tyr196Cys | |
| XM_011518146.1:c.723A>G | XP_011516448.1:p.Leu241= | |
| XR_929703.1:n.1219A>G | ||
| NM_001353193.1:c.1043A>G | NP_001340122.1:p.Tyr348Cys | |
| NM_001353194.1:c.815A>G | NP_001340123.1:p.Tyr272Cys | |
| NM_001353195.1:c.626A>G | NP_001340124.1:p.Tyr209Cys | |
| NM_001353196.1:c.887A>G | NP_001340125.1:p.Tyr296Cys | |
| NM_001353197.1:c.881A>G | NP_001340126.1:p.Tyr294Cys | |
| NM_001353198.1:c.881A>G | NP_001340127.1:p.Tyr294Cys | |
| NM_001353199.1:c.692A>G | NP_001340128.1:p.Tyr231Cys | |
| NM_001353200.1:c.521A>G | NP_001340129.1:p.Tyr174Cys | |
| NR_148391.1:n.1027A>G | ||
| NR_148392.1:n.1245A>G | ||
| NR_148393.1:n.1027A>G | ||
| NR_148394.1:n.915A>G | ||
| NR_148395.1:n.1179A>G | ||
| NR_148396.1:n.808A>G | ||
| NR_148397.1:n.1072A>G | ||
| NR_148398.1:n.1027A>G | ||
| NR_148399.1:n.1419A>G | ||
| NR_148400.1:n.1013A>G | ||
| XM_005272162.3:c.-160A>G | XP_005272219.1:n.-160A>G | |
| XM_006716932.2:c.692A>G | XP_006716995.1:p.Tyr231Cys | |
| XM_011518140.2:c.896A>G | XP_011516442.1:p.Tyr299Cys | |
| XM_011518141.2:c.830A>G | XP_011516443.1:p.Tyr277Cys | |
| XM_011518142.2:c.734A>G | XP_011516444.1:p.Tyr245Cys | |
| XM_011518143.2:c.723A>G | XP_011516445.1:p.Leu241= | |
| XM_011518145.2:c.587A>G | XP_011516447.1:p.Tyr196Cys | |
| XM_017014205.2:c.-160A>G | XP_016869694.1:n.-160A>G | |
| XM_024447380.1:c.-160A>G | XP_024303148.1:n.-160A>G | |
| XM_024447381.1:c.152A>G | XP_024303149.1:p.Tyr51Cys | |
| XM_024447382.1:c.-160A>G | XP_024303150.1:n.-160A>G | |
| XR_001746160.2:n.1147A>G | ||
| XR_001746162.2:n.1213A>G | ||
| XR_001746164.1:n.925A>G | ||
| XR_001746166.2:n.1364A>G | ||
| NM_001077365.2:c.977A>G MANE Select | NP_001070833.1:p.Tyr326Cys | |
| NM_001077366.2:c.815A>G | NP_001070834.1:p.Tyr272Cys | |
| NM_001136113.2:c.977A>G | NP_001129585.1:p.Tyr326Cys | |
| NM_001136114.2:c.626A>G | NP_001129586.1:p.Tyr209Cys | |
| NM_001353193.2:c.1043A>G | NP_001340122.2:p.Tyr348Cys | |
| NM_001353194.2:c.815A>G | NP_001340123.1:p.Tyr272Cys | |
| NM_001353195.2:c.626A>G | NP_001340124.1:p.Tyr209Cys | |
| NM_001353196.2:c.887A>G | NP_001340125.1:p.Tyr296Cys | |
| NM_001353197.2:c.881A>G | NP_001340126.2:p.Tyr294Cys | |
| NM_001353198.2:c.881A>G | NP_001340127.2:p.Tyr294Cys | |
| NM_001353199.2:c.692A>G | NP_001340128.2:p.Tyr231Cys | |
| NM_001353200.2:c.521A>G | NP_001340129.1:p.Tyr174Cys | |
| NM_001374689.1:c.960A>G | NP_001361618.1:p.Leu320= | |
| NM_001374690.1:c.977A>G | NP_001361619.1:p.Tyr326Cys | |
| NM_001374691.1:c.626A>G | NP_001361620.1:p.Tyr209Cys | |
| NM_001374692.1:c.626A>G | NP_001361621.1:p.Tyr209Cys | |
| NM_001374693.1:c.815A>G | NP_001361622.1:p.Tyr272Cys | |
| NM_001374695.1:c.587A>G | NP_001361624.1:p.Tyr196Cys | |
| NM_007171.4:c.1043A>G | NP_009102.4:p.Tyr348Cys | |
| NR_148391.2:n.1011A>G | ||
| NR_148392.2:n.1229A>G | ||
| NR_148393.2:n.1011A>G | ||
| NR_148394.2:n.899A>G | ||
| NR_148395.2:n.1163A>G | ||
| NR_148396.2:n.792A>G | ||
| NR_148397.2:n.1056A>G | ||
| NR_148398.2:n.1011A>G | ||
| NR_148399.2:n.1403A>G | ||
| NR_148400.2:n.997A>G |