COSMIC:
COSM5019148 (not active)
COSM5019149 (not active)
COSM5019150 (not active)
COSM5019151 (not active)
Revel Score:
ENST00000260766
0.111
ENST00000371380 (MANE Select)
0.111
ENST00000371385
0.111
ENST00000371375
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42292836 (MID)
Genomes Max Group AF
0.40743767 (AFR)
Exomes Max Group AF
0.42043544 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298541C>T , CM000672.2:g.94298541C>T | GRCh38 |
| NC_000010.10:g.96058298C>T , CM000672.1:g.96058298C>T | GRCh37 |
| NC_000010.9:g.96048288C>T | NCBI36 |
| NG_015799.1:g.309553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4406C>T | ENSP00000360426.1:p.Thr1469Ile | |
| ENST00000685253.1:c.*1873C>T | ENSP00000509405.1:n.*1873C>T | |
| ENST00000685889.1:n.2065C>T | ||
| ENST00000686807.1:n.749C>T | ||
| ENST00000686954.1:c.*614C>T | ENSP00000508416.1:n.*614C>T | |
| ENST00000688810.1:c.4358C>T | ENSP00000509140.1:p.Thr1453Ile | |
| ENST00000689233.1:n.9538C>T | ||
| ENST00000690340.1:n.3003C>T | ||
| ENST00000692286.1:c.5198C>T | ENSP00000509490.1:p.Thr1733Ile | |
| ENST00000692396.1:c.5282C>T | ENSP00000508605.1:p.Thr1761Ile | |
| ENST00000371380.8:c.5330C>T MANE Select | ENSP00000360431.2:p.Thr1777Ile | |
| ENST00000371385.8:c.4304C>T | ENSP00000360438.4:p.Thr1435Ile | |
| ENST00000674738.1:c.3885C>T | ||
| ENST00000674827.1:c.3446C>T | ENSP00000502523.1:p.Thr1149Ile | |
| ENST00000675218.1:c.4406C>T | ENSP00000501910.1:p.Thr1469Ile | |
| ENST00000675487.1:c.*1263C>T | ENSP00000502340.1:n.*1263C>T | |
| ENST00000675718.1:c.4599C>T | ||
| ENST00000260766.7:c.5330C>T | ENSP00000260766.3:p.Thr1777Ile | |
| ENST00000371375.1:c.4406C>T | ENSP00000360426.1:p.Thr1469Ile | |
| ENST00000371380.7:c.5330C>T | ENSP00000360431.2:p.Thr1777Ile | |
| ENST00000371385.7:c.4406C>T | ENSP00000360438.3:p.Thr1469Ile | |
| NM_001165979.2:c.4406C>T | NP_001159451.1:p.Thr1469Ile | |
| NM_001288989.1:c.5282C>T | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.3:c.5330C>T | NP_057425.3:p.Thr1777Ile | |
| XM_006717885.2:c.5372C>T | XP_006717948.1:p.Thr1791Ile | |
| XM_006717886.2:c.5372C>T | XP_006717949.1:p.Thr1791Ile | |
| XM_006717888.2:c.5369C>T | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.2:c.5324C>T | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.1:c.4448C>T | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.1:c.5372C>T | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.1:c.4217C>T | XP_011538152.1:p.Thr1406Ile | |
| XM_006717885.4:c.5372C>T | XP_006717948.1:p.Thr1791Ile | |
| XM_006717888.4:c.5369C>T | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.4:c.5324C>T | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.3:c.4448C>T | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.3:c.5372C>T | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.3:c.4217C>T | XP_011538152.1:p.Thr1406Ile | |
| XM_017016310.2:c.5372C>T | XP_016871799.1:p.Thr1791Ile | |
| XM_017016311.2:c.5372C>T | XP_016871800.1:p.Thr1791Ile | |
| XM_017016312.2:c.4358C>T | XP_016871801.1:p.Thr1453Ile | |
| NM_001288989.2:c.5282C>T | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.4:c.5330C>T MANE Select | NP_057425.3:p.Thr1777Ile |