Linked Data
ClinVar Variation Id:
202697
ClinVar RCV Id:
RCV000220238
RCV000243770
RCV000346465
RCV000306260
RCV000349767
RCV000394740
RCV000405647
RCV000460845
RCV001704907
dbSNP Id:
rs201825412
ExAC:
2:179474255 C / T
gnomAD v2:
2-179474255-C-T
gnomAD v3:
2-178609528-C-T
gnomAD v4:
2-178609528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609528C>T , CM000664.2:g.178609528C>T | GRCh38 |
| NC_000002.11:g.179474255C>T , CM000664.1:g.179474255C>T | GRCh37 |
| NC_000002.10:g.179182500C>T | NCBI36 |
| NG_011618.3:g.226275G>A , LRG_391:g.226275G>A | |
| NG_051363.1:g.91702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44078G>A (TTN) | ENSP00000343764.6:p.Arg14693Gln | |
| ENST00000342175.11:c.25163G>A (TTN) | ENSP00000340554.6:p.Arg8388Gln | |
| ENST00000359218.10:c.24962G>A (TTN) | ENSP00000352154.5:p.Arg8321Gln | |
| ENST00000342175.10:c.25163G>A (TTN) | ENSP00000340554.6:p.Arg8388Gln | |
| ENST00000342992.10:c.44078G>A (TTN) | ENSP00000343764.6:p.Arg14693Gln | |
| ENST00000359218.9:c.24962G>A (TTN) | ENSP00000352154.5:p.Arg8321Gln | |
| ENST00000460472.6:c.24587G>A (TTN) | ENSP00000434586.1:p.Arg8196Gln | |
| ENST00000589042.5:c.51782G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17261Gln | |
| ENST00000591111.5:c.46859G>A (TTN) | ENSP00000465570.1:p.Arg15620Gln | |
| ENST00000615779.4:c.46859G>A (TTN) | ENSP00000483597.1:p.Arg15620Gln | |
| NM_001256850.1:c.46859G>A (TTN) | NP_001243779.1:p.Arg15620Gln | |
| NM_001267550.2:c.51782G>A (TTN) MANE Select | NP_001254479.2:p.Arg17261Gln | |
| NM_003319.4:c.24587G>A (TTN) | NP_003310.4:p.Arg8196Gln | |
| NM_133378.4:c.44078G>A (TTN) | NP_596869.4:p.Arg14693Gln | |
| NM_133432.3:c.24962G>A (TTN) | NP_597676.3:p.Arg8321Gln | |
| NM_133437.4:c.25163G>A (TTN) | NP_597681.4:p.Arg8388Gln | |
| NR_038271.1:n.782+1262C>T (TTN-AS1) | ||
| XM_011511729.1:c.50879G>A (TTN) | XP_011510031.1:p.Arg16960Gln | |
| XM_011511730.1:c.24773G>A (TTN) | XP_011510032.1:p.Arg8258Gln | |
| XM_011511731.1:c.24632G>A (TTN) | XP_011510033.1:p.Arg8211Gln | |
| XM_017004819.1:c.50675G>A (TTN) | XP_016860308.1:p.Arg16892Gln | |
| XM_017004820.1:c.46073G>A (TTN) | XP_016860309.1:p.Arg15358Gln | |
| XM_017004821.1:c.46070G>A (TTN) | XP_016860310.1:p.Arg15357Gln | |
| XM_017004822.1:c.43112G>A (TTN) | XP_016860311.1:p.Arg14371Gln | |
| XM_017004823.1:c.24728G>A (TTN) | XP_016860312.1:p.Arg8243Gln | |
| XM_024453094.1:c.46223G>A (TTN) | XP_024308862.1:p.Arg15408Gln | |
| XM_024453095.1:c.46220G>A (TTN) | XP_024308863.1:p.Arg15407Gln | |
| XM_024453096.1:c.45653G>A (TTN) | XP_024308864.1:p.Arg15218Gln | |
| XM_024453097.1:c.42995G>A (TTN) | XP_024308865.1:p.Arg14332Gln | |
| XM_024453098.1:c.42914G>A (TTN) | XP_024308866.1:p.Arg14305Gln | |
| XM_024453099.1:c.24677G>A (TTN) | XP_024308867.1:p.Arg8226Gln | |
| XM_024453100.1:c.14531G>A (TTN) | XP_024308868.1:p.Arg4844Gln |