COSMIC:
COSM5653870 (not active)
COSM5653871 (not active)
COSM5653872 (not active)
COSM5653873 (not active)
Revel Score:
ENST00000342992
0.224
ENST00000460472
0.224
ENST00000342175
0.224
ENST00000359218
0.224
ENST00000356127
0.224
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18837897 (AMR)
Genomes Max Group AF
0.16712301 (SAS)
Exomes Max Group AF
0.19648446 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543986A>G , CM000664.2:g.178543986A>G | GRCh38 |
| NC_000002.11:g.179408713A>G , CM000664.1:g.179408713A>G | GRCh37 |
| NC_000002.10:g.179116959A>G | NCBI36 |
| NG_011618.3:g.291817T>C , LRG_391:g.291817T>C | |
| NG_051363.1:g.26160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88454T>C (TTN) | ENSP00000343764.6:p.Ile29485Thr | |
| ENST00000342175.11:c.69539T>C (TTN) | ENSP00000340554.6:p.Ile23180Thr | |
| ENST00000359218.10:c.69338T>C (TTN) | ENSP00000352154.5:p.Ile23113Thr | |
| ENST00000342175.10:c.69539T>C (TTN) | ENSP00000340554.6:p.Ile23180Thr | |
| ENST00000342992.10:c.88454T>C (TTN) | ENSP00000343764.6:p.Ile29485Thr | |
| ENST00000359218.9:c.69338T>C (TTN) | ENSP00000352154.5:p.Ile23113Thr | |
| ENST00000460472.6:c.68963T>C (TTN) | ENSP00000434586.1:p.Ile22988Thr | |
| ENST00000589042.5:c.96158T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32053Thr | |
| ENST00000591111.5:c.91235T>C (TTN) | ENSP00000465570.1:p.Ile30412Thr | |
| ENST00000615779.4:c.91235T>C (TTN) | ENSP00000483597.1:p.Ile30412Thr | |
| NM_001256850.1:c.91235T>C (TTN) | NP_001243779.1:p.Ile30412Thr | |
| NM_001267550.2:c.96158T>C (TTN) MANE Select | NP_001254479.2:p.Ile32053Thr | |
| NM_003319.4:c.68963T>C (TTN) | NP_003310.4:p.Ile22988Thr | |
| NM_133378.4:c.88454T>C (TTN) | NP_596869.4:p.Ile29485Thr | |
| NM_133432.3:c.69338T>C (TTN) | NP_597676.3:p.Ile23113Thr | |
| NM_133437.4:c.69539T>C (TTN) | NP_597681.4:p.Ile23180Thr | |
| NR_038271.1:n.446+20350A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1625A>G (TTN-AS1) | ||
| XM_011511729.1:c.95255T>C (TTN) | XP_011510031.1:p.Ile31752Thr | |
| XM_011511730.1:c.69149T>C (TTN) | XP_011510032.1:p.Ile23050Thr | |
| XM_011511731.1:c.69008T>C (TTN) | XP_011510033.1:p.Ile23003Thr | |
| XM_017004819.1:c.95051T>C (TTN) | XP_016860308.1:p.Ile31684Thr | |
| XM_017004820.1:c.90449T>C (TTN) | XP_016860309.1:p.Ile30150Thr | |
| XM_017004821.1:c.90446T>C (TTN) | XP_016860310.1:p.Ile30149Thr | |
| XM_017004822.1:c.87488T>C (TTN) | XP_016860311.1:p.Ile29163Thr | |
| XM_017004823.1:c.69104T>C (TTN) | XP_016860312.1:p.Ile23035Thr | |
| XM_024453094.1:c.90599T>C (TTN) | XP_024308862.1:p.Ile30200Thr | |
| XM_024453095.1:c.90596T>C (TTN) | XP_024308863.1:p.Ile30199Thr | |
| XM_024453096.1:c.90029T>C (TTN) | XP_024308864.1:p.Ile30010Thr | |
| XM_024453097.1:c.87371T>C (TTN) | XP_024308865.1:p.Ile29124Thr | |
| XM_024453098.1:c.87290T>C (TTN) | XP_024308866.1:p.Ile29097Thr | |
| XM_024453099.1:c.69053T>C (TTN) | XP_024308867.1:p.Ile23018Thr | |
| XM_024453100.1:c.58907T>C (TTN) | XP_024308868.1:p.Ile19636Thr |