Revel Score:
ENST00000361705
0.263
ENST00000456518
0.263
ENST00000402904
0.263
ENST00000397174
0.263
ENST00000397171
0.263
ENST00000361191
0.263
ENST00000372597
0.263
ENST00000372596
0.263
ENST00000337495
0.263
ENST00000372595
0.263
ENST00000326197
0.263
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00419767 (NFE)
Genomes Max Group AF
0.00384673 (NFE)
Exomes Max Group AF
0.00419734 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41075230G>A , CM000663.2:g.41075230G>A | GRCh38 |
| NC_000001.10:g.41540902G>A , CM000663.1:g.41540902G>A | GRCh37 |
| NC_000001.9:g.41313489G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695335.1:c.967C>T MANE Select | ENSP00000511813.1:p.Pro323Ser | |
| ENST00000695336.1:c.746-26340C>T | ENSP00000511814.1:n.746-26340C>T | |
| ENST00000695337.1:c.937C>T | ENSP00000511815.1:p.Pro313Ser | |
| ENST00000326197.11:c.937C>T | ENSP00000318094.7:p.Pro313Ser | |
| ENST00000337495.9:c.967C>T | ENSP00000337352.5:p.Pro323Ser | |
| ENST00000361191.9:c.754C>T | ENSP00000354656.5:p.Pro252Ser | |
| ENST00000361705.7:c.796C>T | ENSP00000354996.3:p.Pro266Ser | |
| ENST00000372595.5:c.754C>T | ENSP00000361676.1:p.Pro252Ser | |
| ENST00000372596.5:c.754C>T | ENSP00000361677.1:p.Pro252Ser | |
| ENST00000372597.5:c.796C>T | ENSP00000361678.1:p.Pro266Ser | |
| ENST00000397171.6:c.754C>T | ENSP00000380356.2:p.Pro252Ser | |
| ENST00000397174.6:c.937C>T | ENSP00000380359.3:p.Pro313Ser | |
| ENST00000402904.6:c.754C>T | ENSP00000386079.3:p.Pro252Ser | |
| ENST00000456518.3:c.463C>T | ENSP00000403974.2:p.Pro155Ser | |
| NM_001031694.2:c.937C>T | NP_001026864.1:p.Pro313Ser | |
| NM_001172218.1:c.754C>T | NP_001165689.1:p.Pro252Ser | |
| NM_001172219.1:c.967C>T | NP_001165690.1:p.Pro323Ser | |
| NM_001172220.1:c.754C>T | NP_001165691.1:p.Pro252Ser | |
| NM_001172221.1:c.754C>T | NP_001165692.1:p.Pro252Ser | |
| NM_001172222.1:c.463C>T | NP_001165693.1:p.Pro155Ser | |
| NM_012236.3:c.796C>T | NP_036368.1:p.Pro266Ser | |
| XM_006710462.2:c.967C>T | XP_006710525.1:p.Pro323Ser | |
| XM_006710464.1:c.754C>T | XP_006710527.1:p.Pro252Ser | |
| XM_006710469.2:c.967C>T | XP_006710532.1:p.Pro323Ser | |
| XM_006710470.2:c.967C>T | XP_006710533.1:p.Pro323Ser | |
| XM_011541032.1:c.967C>T | XP_011539334.1:p.Pro323Ser | |
| XM_011541033.1:c.937C>T | XP_011539335.1:p.Pro313Ser | |
| XM_011541034.1:c.967C>T | XP_011539336.1:p.Pro323Ser | |
| XM_011541035.1:c.796C>T | XP_011539337.1:p.Pro266Ser | |
| XM_011541036.1:c.754C>T | XP_011539338.1:p.Pro252Ser | |
| XM_011541037.1:c.754C>T | XP_011539339.1:p.Pro252Ser | |
| XM_011541038.1:c.967C>T | XP_011539340.1:p.Pro323Ser | |
| XM_011541039.1:c.746-26340C>T | XP_011539341.1:n.746-26340C>T | |
| XM_011541040.1:c.967C>T | XP_011539342.1:p.Pro323Ser | |
| XM_011541041.1:c.967C>T | XP_011539343.1:p.Pro323Ser | |
| XM_011541042.1:c.967C>T | XP_011539344.1:p.Pro323Ser | |
| XM_011541043.1:c.433C>T | XP_011539345.1:p.Pro145Ser | |
| XM_011541044.1:c.433C>T | XP_011539346.1:p.Pro145Ser | |
| XM_011541045.1:c.586C>T | XP_011539347.1:p.Pro196Ser | |
| XR_426594.2:n.1169C>T | ||
| XR_426595.2:n.1169C>T | ||
| XR_946584.1:n.1169C>T | ||
| XR_946585.1:n.1169C>T | ||
| XR_946586.1:n.1148C>T | ||
| XR_946587.1:n.1169C>T | ||
| NM_001172222.2:c.463C>T | NP_001165693.1:p.Pro155Ser | |
| NM_001350667.1:c.664C>T | NP_001337596.1:p.Pro222Ser | |
| NM_001350668.1:c.433C>T | NP_001337597.1:p.Pro145Ser | |
| NR_135092.1:n.1306C>T | ||
| XM_011541032.2:c.967C>T | XP_011539334.1:p.Pro323Ser | |
| XM_011541033.2:c.937C>T | XP_011539335.1:p.Pro313Ser | |
| XM_011541035.2:c.796C>T | XP_011539337.1:p.Pro266Ser | |
| XM_011541036.2:c.754C>T | XP_011539338.1:p.Pro252Ser | |
| XM_011541040.2:c.967C>T | XP_011539342.1:p.Pro323Ser | |
| XM_011541043.2:c.433C>T | XP_011539345.1:p.Pro145Ser | |
| XM_017000698.1:c.877C>T | XP_016856187.1:p.Pro293Ser | |
| XM_017000699.1:c.754C>T | XP_016856188.1:p.Pro252Ser | |
| XM_017000700.1:c.796C>T | XP_016856189.1:p.Pro266Ser | |
| XM_017000702.1:c.664C>T | XP_016856191.1:p.Pro222Ser | |
| XM_017000703.1:c.664C>T | XP_016856192.1:p.Pro222Ser | |
| XM_017000708.1:c.533-26340C>T | XP_016856197.1:n.533-26340C>T | |
| XM_017000711.1:c.533-26340C>T | XP_016856200.1:n.533-26340C>T | |
| XM_017000712.1:c.533-26340C>T | XP_016856201.1:n.533-26340C>T | |
| XM_017000713.2:c.443-26340C>T | XP_016856202.1:n.443-26340C>T | |
| XM_024454203.1:c.664C>T | XP_024309971.1:p.Pro222Ser | |
| XM_024454204.1:c.664C>T | XP_024309972.1:p.Pro222Ser | |
| XM_024454206.1:c.664C>T | XP_024309974.1:p.Pro222Ser | |
| XR_001737045.1:n.1169C>T | ||
| XR_001737046.1:n.1169C>T | ||
| XR_001737051.1:n.1169C>T | ||
| XR_001737052.1:n.1118C>T | ||
| XR_001737053.1:n.1317C>T | ||
| XR_001737054.1:n.1118C>T | ||
| XR_002959757.1:n.1169C>T | ||
| XR_002959760.1:n.1169C>T | ||
| XR_002959761.1:n.1169C>T | ||
| XR_002959762.1:n.1169C>T | ||
| XR_002959763.1:n.1169C>T | ||
| XR_946584.2:n.1169C>T | ||
| NM_001172218.2:c.754C>T | NP_001165689.1:p.Pro252Ser | |
| NM_001172219.2:c.967C>T | NP_001165690.1:p.Pro323Ser | |
| NM_001172220.2:c.754C>T | NP_001165691.1:p.Pro252Ser | |
| NM_001350667.2:c.664C>T | NP_001337596.1:p.Pro222Ser | |
| NM_012236.4:c.796C>T | NP_036368.1:p.Pro266Ser | |
| NM_001031694.3:c.937C>T | NP_001026864.1:p.Pro313Ser | |
| NM_001172221.3:c.754C>T | NP_001165692.1:p.Pro252Ser | |
| NM_001172222.3:c.463C>T | NP_001165693.1:p.Pro155Ser | |
| NM_001350668.2:c.433C>T | NP_001337597.1:p.Pro145Ser | |
| NM_001394299.1:c.937C>T | NP_001381228.1:p.Pro313Ser | |
| NM_001394300.1:c.937C>T | NP_001381229.1:p.Pro313Ser | |
| NM_001394301.1:c.937C>T | NP_001381230.1:p.Pro313Ser | |
| NM_001394302.1:c.937C>T | NP_001381231.1:p.Pro313Ser | |
| NM_001394303.1:c.754C>T | NP_001381232.1:p.Pro252Ser | |
| NM_001394304.1:c.937C>T | NP_001381233.1:p.Pro313Ser | |
| NM_001394305.1:c.937C>T | NP_001381234.1:p.Pro313Ser | |
| NM_001394306.1:c.937C>T | NP_001381235.1:p.Pro313Ser | |
| NM_001394307.1:c.796C>T | NP_001381236.1:p.Pro266Ser | |
| NM_001394308.1:c.746-26340C>T | NP_001381237.1:n.746-26340C>T | |
| NM_001394309.1:c.433C>T | NP_001381238.1:p.Pro145Ser | |
| NM_001394311.1:c.967C>T MANE Select | NP_001381240.1:p.Pro323Ser | |
| NR_135092.2:n.1684C>T |