Revel Score:
ENST00000423007
0.211
ENST00000404875
0.211
ENST00000341012
0.211
ENST00000372228
0.211
ENST00000402686 (MANE Select)
0.211
ENST00000419118
0.211
ENST00000354713
0.211
ENST00000372220
0.211
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001803 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520111C>T , CM000671.2:g.131520111C>T | GRCh38 |
| NC_000009.11:g.134395498C>T , CM000671.1:g.134395498C>T | GRCh37 |
| NC_000009.10:g.133385319C>T | NCBI36 |
| NG_008896.1:g.22210C>T | |
| NG_008896.2:g.22210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1454C>T | ENSP00000343034.7:p.Ser485Leu | |
| ENST00000404875.7:n.2156C>T | ||
| ENST00000423007.6:c.1673C>T | ENSP00000404119.2:p.Ser558Leu | |
| ENST00000677295.2:c.*1960C>T | ENSP00000504346.2:n.*1960C>T | |
| ENST00000678264.2:c.*1799C>T | ENSP00000503157.2:n.*1799C>T | |
| ENST00000682070.1:n.2081C>T | ||
| ENST00000682813.1:n.2020C>T | ||
| ENST00000683392.1:n.4363C>T | ||
| ENST00000683712.1:n.2021C>T | ||
| ENST00000683900.1:n.3516C>T | ||
| ENST00000684062.1:n.2282C>T | ||
| ENST00000684579.1:n.3462C>T | ||
| ENST00000684679.1:n.843C>T | ||
| ENST00000341012.12:c.1454C>T | ENSP00000343034.7:p.Ser485Leu | |
| ENST00000372220.5:c.485C>T | ENSP00000361294.5:p.Ser162Leu | |
| ENST00000372228.9:c.1682C>T | ENSP00000361302.3:p.Ser561Leu | |
| ENST00000402686.8:c.1616C>T MANE Select | ENSP00000385797.4:p.Ser539Leu | |
| ENST00000676640.1:c.1616C>T | ENSP00000503281.1:p.Ser539Leu | |
| ENST00000676803.1:c.759+625C>T | ENSP00000503093.1:n.759+625C>T | |
| ENST00000676835.1:c.*831C>T | ENSP00000502911.1:n.*831C>T | |
| ENST00000677029.1:c.1160C>T | ENSP00000502936.1:p.Ser387Leu | |
| ENST00000677099.1:c.*1326C>T | ENSP00000504553.1:n.*1326C>T | |
| ENST00000677216.1:c.1265C>T | ENSP00000503772.1:p.Ser422Leu | |
| ENST00000677221.1:n.641C>T | ||
| ENST00000677295.1:c.*993C>T | ENSP00000504346.1:n.*993C>T | |
| ENST00000677444.1:c.1561C>T | ||
| ENST00000677586.1:n.1065+625C>T | ||
| ENST00000677626.1:c.1265C>T | ENSP00000503552.1:p.Ser422Leu | |
| ENST00000677677.1:n.1576C>T | ||
| ENST00000677853.1:c.*624C>T | ENSP00000503488.1:n.*624C>T | |
| ENST00000678202.1:n.775C>T | ||
| ENST00000678264.1:c.*993C>T | ENSP00000503157.1:n.*993C>T | |
| ENST00000678303.1:c.1526C>T | ENSP00000503696.1:p.Ser509Leu | |
| ENST00000678366.1:c.*1865C>T | ENSP00000504353.1:n.*1865C>T | |
| ENST00000678546.1:c.*1561C>T | ENSP00000503062.1:n.*1561C>T | |
| ENST00000678548.1:c.*1688C>T | ENSP00000503934.1:n.*1688C>T | |
| ENST00000678626.1:n.1452C>T | ||
| ENST00000678733.1:c.697C>T | ||
| ENST00000678739.1:c.*1937C>T | ENSP00000503806.1:n.*1937C>T | |
| ENST00000678833.1:c.*1368C>T | ENSP00000503893.1:n.*1368C>T | |
| ENST00000679023.1:c.1454C>T | ENSP00000503718.1:p.Ser485Leu | |
| ENST00000679076.1:c.1235C>T | ||
| ENST00000679111.1:c.*372C>T | ENSP00000504257.1:n.*372C>T | |
| ENST00000679189.1:c.1265C>T | ENSP00000503356.1:p.Ser422Leu | |
| ENST00000341012.11:c.1454C>T | ENSP00000343034.7:p.Ser485Leu | |
| ENST00000372220.4:c.479C>T | ENSP00000361294.4:p.Ser160Leu | |
| ENST00000372228.7:c.1682C>T | ENSP00000361302.3:p.Ser561Leu | |
| ENST00000402686.7:c.1616C>T | ENSP00000385797.3:p.Ser539Leu | |
| ENST00000404875.6:c.1265C>T | ENSP00000384531.2:p.Ser422Leu | |
| ENST00000423007.5:c.1616C>T | ENSP00000404119.1:p.Ser539Leu | |
| ENST00000467848.1:n.320C>T | ||
| ENST00000485278.5:n.2166C>T | ||
| NM_001077365.1:c.1616C>T | NP_001070833.1:p.Ser539Leu | |
| NM_001077366.1:c.1454C>T | NP_001070834.1:p.Ser485Leu | |
| NM_001136113.1:c.1616C>T | NP_001129585.1:p.Ser539Leu | |
| NM_001136114.1:c.1265C>T | NP_001129586.1:p.Ser422Leu | |
| NM_007171.3:c.1682C>T | NP_009102.3:p.Ser561Leu | |
| XM_005272156.1:c.1682C>T | XP_005272213.1:p.Ser561Leu | |
| XM_005272158.1:c.1520C>T | XP_005272215.1:p.Ser507Leu | |
| XM_005272159.1:c.1331C>T | XP_005272216.1:p.Ser444Leu | |
| XM_005272162.1:c.485C>T | XP_005272219.1:p.Ser162Leu | |
| XM_006716932.1:c.1331C>T | XP_006716995.1:p.Ser444Leu | |
| XM_011518140.1:c.1535C>T | XP_011516442.1:p.Ser512Leu | |
| XM_011518141.1:c.1469C>T | XP_011516443.1:p.Ser490Leu | |
| XM_011518142.1:c.1373C>T | XP_011516444.1:p.Ser458Leu | |
| XM_011518143.1:c.1367C>T | XP_011516445.1:p.Ser456Leu | |
| XM_011518145.1:c.1226C>T | XP_011516447.1:p.Ser409Leu | |
| XM_011518147.1:c.554C>T | XP_011516449.1:p.Ser185Leu | |
| XR_929703.1:n.1858C>T | ||
| NM_001353193.1:c.1682C>T | NP_001340122.1:p.Ser561Leu | |
| NM_001353194.1:c.1454C>T | NP_001340123.1:p.Ser485Leu | |
| NM_001353195.1:c.1265C>T | NP_001340124.1:p.Ser422Leu | |
| NM_001353196.1:c.1526C>T | NP_001340125.1:p.Ser509Leu | |
| NM_001353197.1:c.1520C>T | NP_001340126.1:p.Ser507Leu | |
| NM_001353198.1:c.1520C>T | NP_001340127.1:p.Ser507Leu | |
| NM_001353199.1:c.1331C>T | NP_001340128.1:p.Ser444Leu | |
| NM_001353200.1:c.1160C>T | NP_001340129.1:p.Ser387Leu | |
| NR_148391.1:n.1666C>T | ||
| NR_148392.1:n.1884C>T | ||
| NR_148393.1:n.1805C>T | ||
| NR_148394.1:n.1559C>T | ||
| NR_148395.1:n.1957C>T | ||
| NR_148396.1:n.1591C>T | ||
| NR_148397.1:n.1716C>T | ||
| NR_148398.1:n.1671C>T | ||
| NR_148399.1:n.2197C>T | ||
| NR_148400.1:n.1796C>T | ||
| XM_005272162.3:c.485C>T | XP_005272219.1:p.Ser162Leu | |
| XM_006716932.2:c.1331C>T | XP_006716995.1:p.Ser444Leu | |
| XM_011518140.2:c.1535C>T | XP_011516442.1:p.Ser512Leu | |
| XM_011518141.2:c.1469C>T | XP_011516443.1:p.Ser490Leu | |
| XM_011518142.2:c.1373C>T | XP_011516444.1:p.Ser458Leu | |
| XM_011518143.2:c.1367C>T | XP_011516445.1:p.Ser456Leu | |
| XM_011518145.2:c.1226C>T | XP_011516447.1:p.Ser409Leu | |
| XM_017014205.2:c.485C>T | XP_016869694.1:p.Ser162Leu | |
| XM_024447380.1:c.485C>T | XP_024303148.1:p.Ser162Leu | |
| XM_024447381.1:c.791C>T | XP_024303149.1:p.Ser264Leu | |
| XM_024447382.1:c.485C>T | XP_024303150.1:p.Ser162Leu | |
| XR_001746160.2:n.1786C>T | ||
| XR_001746162.2:n.1991C>T | ||
| XR_001746164.1:n.1708C>T | ||
| XR_001746166.2:n.2003C>T | ||
| NM_001077365.2:c.1616C>T MANE Select | NP_001070833.1:p.Ser539Leu | |
| NM_001077366.2:c.1454C>T | NP_001070834.1:p.Ser485Leu | |
| NM_001136113.2:c.1616C>T | NP_001129585.1:p.Ser539Leu | |
| NM_001136114.2:c.1265C>T | NP_001129586.1:p.Ser422Leu | |
| NM_001353193.2:c.1682C>T | NP_001340122.2:p.Ser561Leu | |
| NM_001353194.2:c.1454C>T | NP_001340123.1:p.Ser485Leu | |
| NM_001353195.2:c.1265C>T | NP_001340124.1:p.Ser422Leu | |
| NM_001353196.2:c.1526C>T | NP_001340125.1:p.Ser509Leu | |
| NM_001353197.2:c.1520C>T | NP_001340126.2:p.Ser507Leu | |
| NM_001353198.2:c.1520C>T | NP_001340127.2:p.Ser507Leu | |
| NM_001353199.2:c.1331C>T | NP_001340128.2:p.Ser444Leu | |
| NM_001353200.2:c.1160C>T | NP_001340129.1:p.Ser387Leu | |
| NM_001374689.1:c.1604C>T | NP_001361618.1:p.Ser535Leu | |
| NM_001374690.1:c.1397C>T | NP_001361619.1:p.Ser466Leu | |
| NM_001374691.1:c.1265C>T | NP_001361620.1:p.Ser422Leu | |
| NM_001374692.1:c.1265C>T | NP_001361621.1:p.Ser422Leu | |
| NM_001374693.1:c.1265C>T | NP_001361622.1:p.Ser422Leu | |
| NM_001374695.1:c.1226C>T | NP_001361624.1:p.Ser409Leu | |
| NM_007171.4:c.1682C>T | NP_009102.4:p.Ser561Leu | |
| NR_148391.2:n.1650C>T | ||
| NR_148392.2:n.1868C>T | ||
| NR_148393.2:n.1789C>T | ||
| NR_148394.2:n.1543C>T | ||
| NR_148395.2:n.1941C>T | ||
| NR_148396.2:n.1575C>T | ||
| NR_148397.2:n.1700C>T | ||
| NR_148398.2:n.1655C>T | ||
| NR_148399.2:n.2181C>T | ||
| NR_148400.2:n.1780C>T |