Revel Score:
ENST00000373950
0.238
ENST00000373951
0.238
ENST00000373946
0.238
ENST00000338074 (MANE Select)
0.238
ENST00000373941
0.238
ENST00000454226
0.238
ENST00000451082
0.015
ENST00000432603
0.015
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36214379T>C , CM000682.2:g.36214379T>C | GRCh38 |
| NC_000020.10:g.34802301T>C , CM000682.1:g.34802301T>C | GRCh37 |
| NC_000020.9:g.34265715T>C | NCBI36 |
| NG_031853.2:g.127876T>C | |
| NG_031853.3:g.127876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338074.7:c.2207T>C MANE Select | ENSP00000337168.2:p.Val736Ala | |
| ENST00000636016.2:c.4349T>C | ENSP00000489867.2:p.Val1450Ala | |
| ENST00000202028.9:c.1962+2003T>C | ENSP00000202028.5:n.1962+2003T>C | |
| ENST00000338074.6:c.2207T>C | ENSP00000337168.2:p.Val736Ala | |
| ENST00000373941.5:c.2204T>C | ENSP00000363052.1:p.Val735Ala | |
| ENST00000373946.7:c.2204T>C | ENSP00000363057.4:p.Val735Ala | |
| ENST00000373950.6:c.1880T>C | ENSP00000363061.2:p.Val627Ala | |
| ENST00000432603.1:c.7T>C | ||
| ENST00000441639.5:c.1962+2003T>C | ENSP00000399214.1:n.1962+2003T>C | |
| ENST00000451082.5:c.490T>C | ||
| ENST00000454226.5:c.290T>C | ENSP00000388281.1:p.Val97Ala | |
| ENST00000628415.2:c.1667T>C | ENSP00000487049.2:p.Val556Ala | |
| NM_001258329.1:c.2204T>C | NP_001245258.1:p.Val735Ala | |
| NM_001258330.1:c.1667T>C | NP_001245259.1:p.Val556Ala | |
| NM_001258331.1:c.1962+2003T>C | NP_001245260.1:n.1962+2003T>C | |
| NM_012156.2:c.2207T>C MANE Select | NP_036288.2:p.Val736Ala | |
| NM_177996.2:c.1962+2003T>C | NP_818932.1:n.1962+2003T>C | |
| XM_011528664.1:c.4241T>C | XP_011526966.1:p.Val1414Ala | |
| XM_011528665.1:c.4241T>C | XP_011526967.1:p.Val1414Ala | |
| XM_011528666.1:c.4208T>C | XP_011526968.1:p.Val1403Ala | |
| XM_011528667.1:c.4319T>C | XP_011526969.1:p.Val1440Ala | |
| XM_011528668.1:c.4221+2003T>C | XP_011526970.1:n.4221+2003T>C | |
| XM_011528669.1:c.4244T>C | XP_011526971.1:p.Val1415Ala | |
| XM_011528670.1:c.4244T>C | XP_011526972.1:p.Val1415Ala | |
| XM_011528671.1:c.4244T>C | XP_011526973.1:p.Val1415Ala | |
| XM_011528672.1:c.4244T>C | XP_011526974.1:p.Val1415Ala | |
| XM_011528673.1:c.4244T>C | XP_011526975.1:p.Val1415Ala | |
| XM_011528674.1:c.4244T>C | XP_011526976.1:p.Val1415Ala | |
| XM_011528675.1:c.4151T>C | XP_011526977.1:p.Val1384Ala | |
| XM_011528676.1:c.4221+2003T>C | XP_011526978.1:n.4221+2003T>C | |
| XM_011528677.1:c.4058T>C | XP_011526979.1:p.Val1353Ala | |
| XM_011528679.1:c.2312T>C | XP_011526981.1:p.Val771Ala | |
| XM_011528680.1:c.2171T>C | XP_011526982.1:p.Val724Ala | |
| XM_011528681.1:c.2168T>C | XP_011526983.1:p.Val723Ala | |
| XM_011528682.1:c.2165T>C | XP_011526984.1:p.Val722Ala | |
| XM_011528683.1:c.2184+2003T>C | XP_011526985.1:n.2184+2003T>C | |
| XM_011528684.1:c.2148+2003T>C | XP_011526986.1:n.2148+2003T>C | |
| XM_011528685.1:c.1796T>C | XP_011526987.1:p.Val599Ala | |
| XM_011528686.1:c.1760T>C | XP_011526988.1:p.Val587Ala | |
| XR_936695.1:n.309-1003A>G | ||
| XM_017027711.1:c.4058T>C | XP_016883200.1:p.Val1353Ala | |
| XM_017027712.2:c.2114T>C | XP_016883201.1:p.Val705Ala | |
| XM_017027713.2:c.2078T>C | XP_016883202.1:p.Val693Ala | |
| XM_017027714.2:c.2055+2003T>C | XP_016883203.1:n.2055+2003T>C | |
| XM_017027715.1:c.2168T>C | XP_016883204.1:p.Val723Ala | |
| XM_017027716.1:c.2204T>C | XP_016883205.1:p.Val735Ala | |
| XM_017027717.2:c.2204T>C | XP_016883206.1:p.Val735Ala | |
| XM_017027718.2:c.1703T>C | XP_016883207.1:p.Val568Ala | |
| XM_017027719.2:c.1667T>C | XP_016883208.1:p.Val556Ala | |
| XM_017027720.1:c.1737+2003T>C | XP_016883209.1:n.1737+2003T>C | |
| XM_024451851.1:c.4202T>C | XP_024307619.1:p.Val1401Ala | |
| XM_024451852.1:c.4058T>C | XP_024307620.1:p.Val1353Ala | |
| XM_024451853.1:c.4058T>C | XP_024307621.1:p.Val1353Ala | |
| XM_024451854.1:c.1587+2003T>C | XP_024307622.1:n.1587+2003T>C | |
| XR_936695.2:n.314-1003A>G | ||
| NM_001258331.2:c.1962+2003T>C | NP_001245260.1:n.1962+2003T>C |