Revel Score:
ENST00000219476 (MANE Select)
0.572
ENST00000401874
0.572
ENST00000353929
0.572
ENST00000439673
0.572
ENST00000382538
0.572
ENST00000350773
0.572
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000367 (SAS)
Exomes Max Group AF
0.00000387 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084487C>T , CM000678.2:g.2084487C>T | GRCh38 |
| NC_000016.9:g.2134488C>T , CM000678.1:g.2134488C>T | GRCh37 |
| NC_000016.8:g.2074489C>T | NCBI36 |
| NG_005895.1:g.40182C>T , LRG_487:g.40182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2614C>T | ENSP00000455997.2:n.*2614C>T | |
| ENST00000642206.2:c.4112C>T | ENSP00000495146.2:p.Thr1371Ile | |
| ENST00000642365.2:c.4262C>T | ENSP00000495459.2:p.Thr1421Ile | |
| ENST00000644417.2:c.*4645C>T | ENSP00000493912.2:n.*4645C>T | |
| ENST00000646464.2:c.*7014C>T | ENSP00000496610.2:n.*7014C>T | |
| ENST00000219476.9:c.4265C>T MANE Select | ENSP00000219476.3:p.Thr1422Ile | |
| ENST00000350773.9:c.4196C>T | ENSP00000344383.4:p.Thr1399Ile | |
| ENST00000401874.7:c.4064C>T | ENSP00000384468.2:p.Thr1355Ile | |
| ENST00000568454.6:c.4097C>T | ENSP00000454487.1:p.Thr1366Ile | |
| ENST00000569110.2:c.501C>T | ||
| ENST00000569930.2:n.2147C>T | ||
| ENST00000642365.1:c.2919C>T | ||
| ENST00000642561.1:c.4136C>T | ENSP00000495099.1:p.Thr1379Ile | |
| ENST00000642728.1:n.447C>T | ||
| ENST00000642797.1:c.4067C>T | ENSP00000493846.1:p.Thr1356Ile | |
| ENST00000642936.1:c.4133C>T | ENSP00000494514.1:p.Thr1378Ile | |
| ENST00000643088.1:c.4064C>T | ENSP00000494747.1:p.Thr1355Ile | |
| ENST00000643177.1:n.279C>T | ||
| ENST00000643426.1:n.1913C>T | ||
| ENST00000643946.1:c.4196C>T | ENSP00000495927.1:p.Thr1399Ile | |
| ENST00000644043.1:c.4136C>T | ENSP00000496262.1:p.Thr1379Ile | |
| ENST00000644329.1:c.4064C>T | ENSP00000496611.1:p.Thr1355Ile | |
| ENST00000644335.1:c.4067C>T | ENSP00000496317.1:p.Thr1356Ile | |
| ENST00000644399.1:c.4186C>T | ||
| ENST00000645024.1:n.2349C>T | ||
| ENST00000645186.1:c.508C>T | ||
| ENST00000646388.1:c.4265C>T | ENSP00000495921.1:p.Thr1422Ile | |
| ENST00000646634.1:n.3080C>T | ||
| ENST00000646674.1:n.1517C>T | ||
| ENST00000647042.1:n.1488C>T | ||
| ENST00000647180.1:n.1378C>T | ||
| ENST00000219476.7:c.4265C>T | ENSP00000219476.3:p.Thr1422Ile | |
| ENST00000350773.8:c.4196C>T | ENSP00000344383.4:p.Thr1399Ile | |
| ENST00000382538.10:c.3920C>T | ENSP00000371978.6:p.Thr1307Ile | |
| ENST00000401874.6:c.4064C>T | ENSP00000384468.2:p.Thr1355Ile | |
| ENST00000439117.6:c.*3432C>T | ENSP00000406980.2:n.*3432C>T | |
| ENST00000439673.6:c.3956C>T | ENSP00000399232.2:p.Thr1319Ile | |
| ENST00000497886.5:n.2023C>T | ||
| ENST00000568454.5:c.4097C>T | ENSP00000454487.1:p.Thr1366Ile | |
| ENST00000569110.1:c.447C>T | ||
| ENST00000569930.1:n.1380C>T | ||
| NM_000548.3:c.4265C>T , LRG_487t1:c.4265C>T | NP_000539.2:p.Thr1422Ile | |
| NM_001077183.1:c.4064C>T | NP_001070651.1:p.Thr1355Ile | |
| NM_001114382.1:c.4196C>T | NP_001107854.1:p.Thr1399Ile | |
| XM_005255529.3:c.4136C>T | XP_005255586.2:p.Thr1379Ile | |
| XM_005255531.3:c.4067C>T | XP_005255588.2:p.Thr1356Ile | |
| XM_011522636.1:c.4319C>T | XP_011520938.1:p.Thr1440Ile | |
| XM_011522637.1:c.4316C>T | XP_011520939.1:p.Thr1439Ile | |
| XM_011522638.1:c.4208C>T | XP_011520940.1:p.Thr1403Ile | |
| XM_011522639.1:c.4190C>T | XP_011520941.1:p.Thr1397Ile | |
| XM_011522640.1:c.4187C>T | XP_011520942.1:p.Thr1396Ile | |
| XM_011522641.1:c.3956C>T | XP_011520943.1:p.Thr1319Ile | |
| NM_000548.4:c.4265C>T | NP_000539.2:p.Thr1422Ile | |
| NM_001077183.2:c.4064C>T | NP_001070651.1:p.Thr1355Ile | |
| NM_001114382.2:c.4196C>T | NP_001107854.1:p.Thr1399Ile | |
| NM_001318827.1:c.3956C>T | NP_001305756.1:p.Thr1319Ile | |
| NM_001318829.1:c.3920C>T | NP_001305758.1:p.Thr1307Ile | |
| NM_001318831.1:c.3533C>T | NP_001305760.1:p.Thr1178Ile | |
| NM_001318832.1:c.4097C>T | NP_001305761.1:p.Thr1366Ile | |
| NM_001363528.1:c.4067C>T | NP_001350457.1:p.Thr1356Ile | |
| NM_021055.2:c.4136C>T | NP_066399.2:p.Thr1379Ile | |
| XM_005255531.4:c.4067C>T | XP_005255588.2:p.Thr1356Ile | |
| XM_011522636.2:c.4319C>T | XP_011520938.1:p.Thr1440Ile | |
| XM_011522637.2:c.4316C>T | XP_011520939.1:p.Thr1439Ile | |
| XM_011522638.2:c.4481C>T | XP_011520940.2:p.Thr1494Ile | |
| XM_011522639.2:c.4190C>T | XP_011520941.1:p.Thr1397Ile | |
| XM_011522640.2:c.4187C>T | XP_011520942.1:p.Thr1396Ile | |
| XM_017023615.1:c.4262C>T | XP_016879104.1:p.Thr1421Ile | |
| XM_017023616.1:c.4133C>T | XP_016879105.1:p.Thr1378Ile | |
| XM_017023617.1:c.4229C>T | XP_016879106.1:p.Thr1410Ile | |
| XM_017023618.1:c.2975C>T | XP_016879107.1:p.Thr992Ile | |
| XM_024450413.1:c.4064C>T | XP_024306181.1:p.Thr1355Ile | |
| NM_000548.5:c.4265C>T MANE Select | NP_000539.2:p.Thr1422Ile | |
| NM_001370404.1:c.4133C>T | NP_001357333.1:p.Thr1378Ile | |
| NM_001370405.1:c.4136C>T | NP_001357334.1:p.Thr1379Ile | |
| NM_001077183.3:c.4064C>T | NP_001070651.1:p.Thr1355Ile | |
| NM_001114382.3:c.4196C>T | NP_001107854.1:p.Thr1399Ile | |
| NM_001318827.2:c.3956C>T | NP_001305756.1:p.Thr1319Ile | |
| NM_001318829.2:c.3920C>T | NP_001305758.1:p.Thr1307Ile | |
| NM_001318831.2:c.3533C>T | NP_001305760.1:p.Thr1178Ile | |
| NM_001318832.2:c.4097C>T | NP_001305761.1:p.Thr1366Ile | |
| NM_001363528.2:c.4067C>T | NP_001350457.1:p.Thr1356Ile | |
| NM_021055.3:c.4136C>T | NP_066399.2:p.Thr1379Ile |