Revel Score:
ENST00000449359
0.520
ENST00000441236 (MANE Select)
0.520
ENST00000348497
0.520
ENST00000339507
0.520
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68352314T>G , CM000678.2:g.68352314T>G | GRCh38 |
| NC_000016.9:g.68386217T>G , CM000678.1:g.68386217T>G | GRCh37 |
| NC_000016.8:g.66943718T>G | NCBI36 |
| NG_054896.1:g.46341T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562050.6:c.1480T>G | ENSP00000457381.2:p.Trp494Gly | |
| ENST00000565745.6:c.1480T>G | ENSP00000456190.2:p.Trp494Gly | |
| ENST00000685109.1:c.1480T>G | ENSP00000510738.1:p.Trp494Gly | |
| ENST00000685141.1:c.1480T>G | ENSP00000510413.1:p.Trp494Gly | |
| ENST00000686053.1:c.*483T>G | ENSP00000509773.1:n.*483T>G | |
| ENST00000686904.1:c.1480T>G | ENSP00000510630.1:p.Trp494Gly | |
| ENST00000687444.1:c.1506T>G | ENSP00000508888.1:p.Ser502= | |
| ENST00000687558.1:c.1480T>G | ENSP00000509003.1:p.Trp494Gly | |
| ENST00000687654.1:c.1480T>G | ENSP00000509677.1:p.Trp494Gly | |
| ENST00000688470.1:n.2502T>G | ||
| ENST00000688969.1:c.*1088T>G | ENSP00000509113.1:n.*1088T>G | |
| ENST00000689486.1:c.*829T>G | ENSP00000509523.1:n.*829T>G | |
| ENST00000689637.1:c.1480T>G | ENSP00000509781.1:p.Trp494Gly | |
| ENST00000690311.1:c.1369T>G | ENSP00000509264.1:p.Trp457Gly | |
| ENST00000690432.1:n.1788T>G | ||
| ENST00000690932.1:c.*396T>G | ENSP00000509008.1:n.*396T>G | |
| ENST00000691663.1:c.1186T>G | ENSP00000510167.1:p.Trp396Gly | |
| ENST00000691804.1:c.1342T>G | ENSP00000509455.1:p.Trp448Gly | |
| ENST00000691833.1:c.*829T>G | ENSP00000510744.1:n.*829T>G | |
| ENST00000691961.1:c.1258T>G | ENSP00000510574.1:p.Trp420Gly | |
| ENST00000692283.1:c.*396T>G | ENSP00000508499.1:n.*396T>G | |
| ENST00000692621.1:c.*611T>G | ENSP00000509231.1:n.*611T>G | |
| ENST00000692632.1:c.1480T>G | ENSP00000510669.1:p.Trp494Gly | |
| ENST00000692760.1:c.1480T>G | ENSP00000510748.1:p.Trp494Gly | |
| ENST00000692867.1:n.1788T>G | ||
| ENST00000692966.1:c.1480T>G | ENSP00000510428.1:p.Trp494Gly | |
| ENST00000693200.1:c.*829T>G | ENSP00000508937.1:n.*829T>G | |
| ENST00000693309.1:c.*3459T>G | ENSP00000510806.1:n.*3459T>G | |
| ENST00000693670.1:n.1788T>G | ||
| ENST00000441236.3:c.1480T>G MANE Select | ENSP00000409324.2:p.Trp494Gly | |
| ENST00000675132.1:c.1480T>G | ENSP00000501903.1:p.Trp494Gly | |
| ENST00000339507.9:c.1480T>G | ENSP00000343103.5:p.Trp494Gly | |
| ENST00000441236.2:c.1480T>G | ENSP00000409324.2:p.Trp494Gly | |
| ENST00000449359.7:c.1330T>G | ENSP00000414716.3:p.Trp444Gly | |
| ENST00000563608.2:n.246T>G | ||
| ENST00000565356.5:n.1377T>G | ||
| ENST00000567542.5:n.1604T>G | ||
| ENST00000568975.5:c.1480T>G | ENSP00000454776.1:p.Trp494Gly | |
| NM_001184824.1:c.1330T>G | NP_001171753.1:p.Trp444Gly | |
| NM_001290018.1:c.1480T>G | NP_001276947.1:p.Trp494Gly | |
| NM_019023.2:c.1480T>G | NP_061896.1:p.Trp494Gly | |
| XM_005255991.1:c.1258T>G | XP_005256048.1:p.Trp420Gly | |
| XM_011523112.1:c.1480T>G | XP_011521414.1:p.Trp494Gly | |
| XM_011523113.1:c.1480T>G | XP_011521415.1:p.Trp494Gly | |
| XM_011523114.1:c.1480T>G | XP_011521416.1:p.Trp494Gly | |
| XM_011523115.1:c.1480T>G | XP_011521417.1:p.Trp494Gly | |
| XM_011523116.1:c.1480T>G | XP_011521418.1:p.Trp494Gly | |
| XM_011523117.1:c.1480T>G | XP_011521419.1:p.Trp494Gly | |
| XM_011523118.1:c.1480T>G | XP_011521420.1:p.Trp494Gly | |
| XM_011523119.1:c.1396T>G | XP_011521421.1:p.Trp466Gly | |
| XM_011523120.1:c.1348T>G | XP_011521422.1:p.Trp450Gly | |
| XM_011523121.1:c.1273T>G | XP_011521423.1:p.Trp425Gly | |
| XM_011523122.1:c.1258T>G | XP_011521424.1:p.Trp420Gly | |
| XM_011523123.1:c.1258T>G | XP_011521425.1:p.Trp420Gly | |
| XM_011523124.1:c.1243T>G | XP_011521426.1:p.Trp415Gly | |
| XM_011523125.1:c.1243T>G | XP_011521427.1:p.Trp415Gly | |
| XM_011523126.1:c.1243T>G | XP_011521428.1:p.Trp415Gly | |
| XM_011523127.1:c.1480T>G | XP_011521429.1:p.Trp494Gly | |
| XM_011523128.1:c.1081T>G | XP_011521430.1:p.Trp361Gly | |
| XM_011523129.1:c.1480T>G | XP_011521431.1:p.Trp494Gly | |
| XM_011523130.1:c.397T>G | XP_011521432.1:p.Trp133Gly | |
| XM_011523131.1:c.397T>G | XP_011521433.1:p.Trp133Gly | |
| XR_243413.1:n.1689T>G | ||
| XR_933336.1:n.1689T>G | ||
| XR_933339.1:n.1689T>G | ||
| NM_001184824.2:c.1330T>G | NP_001171753.1:p.Trp444Gly | |
| NM_001351143.1:c.1480T>G | NP_001338072.1:p.Trp494Gly | |
| NM_001351144.1:c.1480T>G | NP_001338073.1:p.Trp494Gly | |
| NM_019023.3:c.1480T>G | NP_061896.1:p.Trp494Gly | |
| NR_147056.1:n.1712T>G | ||
| NR_147057.1:n.2272T>G | ||
| NR_147058.1:n.1847T>G | ||
| XM_011523112.3:c.1480T>G | XP_011521414.1:p.Trp494Gly | |
| XM_011523113.3:c.1480T>G | XP_011521415.1:p.Trp494Gly | |
| XM_011523115.3:c.1480T>G | XP_011521417.1:p.Trp494Gly | |
| XM_011523116.3:c.1480T>G | XP_011521418.1:p.Trp494Gly | |
| XM_011523121.3:c.1273T>G | XP_011521423.1:p.Trp425Gly | |
| XM_011523124.3:c.1243T>G | XP_011521426.1:p.Trp415Gly | |
| XM_011523125.3:c.1243T>G | XP_011521427.1:p.Trp415Gly | |
| XM_011523126.3:c.1243T>G | XP_011521428.1:p.Trp415Gly | |
| XM_011523128.3:c.1081T>G | XP_011521430.1:p.Trp361Gly | |
| XM_017023292.2:c.1480T>G | XP_016878781.1:p.Trp494Gly | |
| XM_017023295.2:c.1480T>G | XP_016878784.1:p.Trp494Gly | |
| XM_017023296.2:c.1480T>G | XP_016878785.1:p.Trp494Gly | |
| XM_017023297.2:c.1480T>G | XP_016878786.1:p.Trp494Gly | |
| XM_017023298.2:c.1348T>G | XP_016878787.1:p.Trp450Gly | |
| XM_017023299.2:c.1348T>G | XP_016878788.1:p.Trp450Gly | |
| XM_017023300.2:c.1258T>G | XP_016878789.1:p.Trp420Gly | |
| XM_017023301.2:c.1258T>G | XP_016878790.1:p.Trp420Gly | |
| XM_017023302.2:c.1243T>G | XP_016878791.1:p.Trp415Gly | |
| XM_017023303.2:c.1243T>G | XP_016878792.1:p.Trp415Gly | |
| XM_017023304.2:c.1480T>G | XP_016878793.1:p.Trp494Gly | |
| XM_017023305.2:c.1273T>G | XP_016878794.1:p.Trp425Gly | |
| XM_017023308.1:c.1243T>G | XP_016878797.1:p.Trp415Gly | |
| XM_017023309.2:c.1243T>G | XP_016878798.1:p.Trp415Gly | |
| XM_017023310.1:c.1243T>G | XP_016878799.1:p.Trp415Gly | |
| XM_017023311.2:c.1081T>G | XP_016878800.1:p.Trp361Gly | |
| XM_017023312.2:c.1258T>G | XP_016878801.1:p.Trp420Gly | |
| XR_001751915.2:n.1805T>G | ||
| XR_001751917.2:n.1779T>G | ||
| XR_001751920.1:n.1750T>G | ||
| XR_001751921.2:n.1584T>G | ||
| XR_001751922.1:n.2009T>G | ||
| XR_001751923.1:n.2175T>G | ||
| XR_001751924.1:n.2058T>G | ||
| XR_002957814.1:n.1805T>G | ||
| XR_002957815.1:n.2637T>G | ||
| XR_002957816.1:n.2539T>G | ||
| XR_002957817.1:n.2539T>G | ||
| XR_002957818.1:n.2491T>G | ||
| XR_002957819.1:n.2499T>G | ||
| XR_002957820.1:n.2608T>G | ||
| XR_002957821.1:n.2442T>G | ||
| XR_002957822.1:n.2608T>G | ||
| XR_002957823.1:n.2491T>G | ||
| XR_002957824.1:n.2349T>G | ||
| NM_001184824.3:c.1330T>G | NP_001171753.1:p.Trp444Gly | |
| NM_001351143.2:c.1480T>G | NP_001338072.1:p.Trp494Gly | |
| NM_001351144.2:c.1480T>G | NP_001338073.1:p.Trp494Gly | |
| NM_019023.4:c.1480T>G | NP_061896.1:p.Trp494Gly | |
| NR_147056.2:n.1644T>G | ||
| NR_147057.2:n.2204T>G | ||
| NR_147058.2:n.1779T>G | ||
| NM_001184824.4:c.1330T>G | NP_001171753.1:p.Trp444Gly | |
| NM_001290018.2:c.1480T>G | NP_001276947.1:p.Trp494Gly | |
| NM_001351143.3:c.1480T>G | NP_001338072.1:p.Trp494Gly | |
| NM_001351144.3:c.1480T>G | NP_001338073.1:p.Trp494Gly | |
| NM_001378018.1:c.1480T>G | NP_001364947.1:p.Trp494Gly | |
| NM_001378020.1:c.1273T>G | NP_001364949.1:p.Trp425Gly | |
| NM_001378021.1:c.1243T>G | NP_001364950.1:p.Trp415Gly | |
| NM_001378022.1:c.1243T>G | NP_001364951.1:p.Trp415Gly | |
| NM_001378023.1:c.1243T>G | NP_001364952.1:p.Trp415Gly | |
| NM_019023.5:c.1480T>G MANE Select | NP_061896.1:p.Trp494Gly | |
| NR_147056.3:n.1644T>G | ||
| NR_147057.3:n.2204T>G | ||
| NR_147058.3:n.1779T>G | ||
| NR_165365.1:n.2637T>G | ||
| NR_165366.1:n.2502T>G | ||
| NR_165367.1:n.2502T>G | ||
| NR_165368.1:n.2600T>G | ||
| NR_165369.1:n.2465T>G | ||
| NR_165370.1:n.2032T>G | ||
| NR_165371.1:n.2528T>G | ||
| NR_165372.1:n.1779T>G | ||
| NR_165373.1:n.1742T>G |