COSMIC:
COSM4415090 (not active)
Revel Score:
ENST00000256216
0.234
ENST00000515320
0.234
ENST00000510025 (MANE Select)
0.234
ENST00000504811
0.234
ENST00000414835
0.234
ENST00000513628
0.234
ENST00000509514
0.234
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08208949 (EAS)
Genomes Max Group AF
0.07307406 (EAS)
Exomes Max Group AF
0.08258321 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119536489C>T , CM000667.2:g.119536489C>T | GRCh38 |
| NC_000005.9:g.118872184C>T , CM000667.1:g.118872184C>T | GRCh37 |
| NC_000005.8:g.118900083C>T | NCBI36 |
| NG_008182.1:g.89037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1991C>T | ENSP00000426272.2:p.Thr664Ile | |
| ENST00000518349.6:c.1304C>T | ENSP00000507185.1:p.Thr435Ile | |
| ENST00000682445.1:c.*1941C>T | ENSP00000508061.1:n.*1941C>T | |
| ENST00000682531.1:n.3952C>T | ||
| ENST00000682626.1:c.*1566C>T | ENSP00000507857.1:n.*1566C>T | |
| ENST00000682996.1:c.1988C>T | ENSP00000507792.1:p.Thr663Ile | |
| ENST00000683265.1:n.3846C>T | ||
| ENST00000683335.1:n.3462C>T | ||
| ENST00000683371.1:c.*2190C>T | ENSP00000508376.1:n.*2190C>T | |
| ENST00000683372.1:n.4070C>T | ||
| ENST00000683390.1:n.8768C>T | ||
| ENST00000683476.1:n.902C>T | ||
| ENST00000683549.1:n.3674C>T | ||
| ENST00000683936.1:c.*3638C>T | ENSP00000507721.1:n.*3638C>T | |
| ENST00000683974.1:n.3789C>T | ||
| ENST00000683996.1:c.*1270C>T | ENSP00000507060.1:n.*1270C>T | |
| ENST00000684131.1:n.3592C>T | ||
| ENST00000684160.1:c.*1750C>T | ENSP00000507821.1:n.*1750C>T | |
| ENST00000684214.1:c.*55C>T | ENSP00000508071.1:n.*55C>T | |
| ENST00000414835.7:c.2135C>T | ENSP00000411960.3:p.Thr712Ile | |
| ENST00000510025.7:c.2060C>T MANE Select | ENSP00000424940.3:p.Thr687Ile | |
| ENST00000643250.1:c.*1932C>T | ENSP00000494737.1:n.*1932C>T | |
| ENST00000643897.1:c.52C>T | ||
| ENST00000644146.1:c.*3331C>T | ENSP00000494808.1:n.*3331C>T | |
| ENST00000645099.1:c.1619C>T | ENSP00000496091.1:p.Thr540Ile | |
| ENST00000645702.1:c.*1463C>T | ENSP00000496432.1:n.*1463C>T | |
| ENST00000645832.1:c.*1945C>T | ENSP00000494316.1:n.*1945C>T | |
| ENST00000646058.1:c.2060C>T | ENSP00000493579.1:p.Thr687Ile | |
| ENST00000646355.1:c.*2066C>T | ENSP00000493801.1:n.*2066C>T | |
| ENST00000646554.1:c.*2038C>T | ENSP00000494542.1:n.*2038C>T | |
| ENST00000647335.1:c.*2027C>T | ENSP00000495180.1:n.*2027C>T | |
| ENST00000647342.1:c.*1991C>T | ENSP00000494992.1:n.*1991C>T | |
| ENST00000256216.10:c.2060C>T | ENSP00000256216.6:p.Thr687Ile | |
| ENST00000414835.6:c.1640C>T | ENSP00000411960.2:p.Thr547Ile | |
| ENST00000442060.7:c.*615C>T | ENSP00000390208.3:n.*615C>T | |
| ENST00000503310.1:n.720C>T | ||
| ENST00000504811.5:c.2135C>T | ENSP00000420914.1:p.Thr712Ile | |
| ENST00000509514.5:c.1274C>T | ENSP00000426272.1:p.Thr425Ile | |
| ENST00000509606.1:n.355C>T | ||
| ENST00000509951.5:n.310-5416C>T | ||
| ENST00000510025.5:c.1988C>T | ENSP00000424940.1:p.Thr663Ile | |
| ENST00000513628.5:c.1649C>T | ENSP00000425993.1:p.Thr550Ile | |
| ENST00000515235.6:n.3813C>T | ||
| ENST00000515320.5:c.2006C>T | ENSP00000424613.1:p.Thr669Ile | |
| ENST00000522415.5:n.727C>T | ||
| NM_000414.3:c.2060C>T | NP_000405.1:p.Thr687Ile | |
| NM_001199291.2:c.2135C>T | NP_001186220.1:p.Thr712Ile | |
| NM_001199292.1:c.2006C>T | NP_001186221.1:p.Thr669Ile | |
| NM_001292027.1:c.1988C>T | NP_001278956.1:p.Thr663Ile | |
| NM_001292028.1:c.1640C>T | NP_001278957.1:p.Thr547Ile | |
| NM_000414.4:c.2060C>T MANE Select | NP_000405.1:p.Thr687Ile | |
| NM_001199291.3:c.2135C>T | NP_001186220.1:p.Thr712Ile | |
| NM_001199292.2:c.2006C>T | NP_001186221.1:p.Thr669Ile | |
| NM_001292027.2:c.1988C>T | NP_001278956.1:p.Thr663Ile | |
| NM_001292028.2:c.1640C>T | NP_001278957.1:p.Thr547Ile | |
| NM_001374497.1:c.2051C>T | NP_001361426.1:p.Thr684Ile | |
| NM_001374498.1:c.1988C>T | NP_001361427.1:p.Thr663Ile | |
| NM_001374499.1:c.1733C>T | NP_001361428.1:p.Thr578Ile | |
| NM_001374500.1:c.1619C>T | NP_001361429.1:p.Thr540Ile | |
| NM_001374501.1:c.1649C>T | NP_001361430.1:p.Thr550Ile | |
| NM_001374502.1:c.1649C>T | NP_001361431.1:p.Thr550Ile | |
| NM_001374503.1:c.1649C>T | NP_001361432.1:p.Thr550Ile | |
| NR_164653.1:n.2157C>T | ||
| NR_164654.1:n.2425C>T |