Linked Data
ClinVar Variation Id:
165977
ClinVar RCV Id:
RCV000152310
RCV000532070
RCV000852518
RCV001129096
RCV001129098
RCV000730160
RCV001129097
RCV001129099
RCV001129095
RCV004532697
RCV002426723
RCV003486678
dbSNP Id:
rs190574498
ExAC:
2:179469726 C / T
gnomAD v2:
2-179469726-C-T
gnomAD v3:
2-178604999-C-T
gnomAD v4:
2-178604999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604999C>T , CM000664.2:g.178604999C>T | GRCh38 |
| NC_000002.11:g.179469726C>T , CM000664.1:g.179469726C>T | GRCh37 |
| NC_000002.10:g.179177971C>T | NCBI36 |
| NG_011618.3:g.230804G>A , LRG_391:g.230804G>A | |
| NG_051363.1:g.87173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46474G>A (TTN) | ENSP00000343764.6:p.Val15492Ile | |
| ENST00000342175.11:c.27559G>A (TTN) | ENSP00000340554.6:p.Val9187Ile | |
| ENST00000359218.10:c.27358G>A (TTN) | ENSP00000352154.5:p.Val9120Ile | |
| ENST00000342175.10:c.27559G>A (TTN) | ENSP00000340554.6:p.Val9187Ile | |
| ENST00000342992.10:c.46474G>A (TTN) | ENSP00000343764.6:p.Val15492Ile | |
| ENST00000359218.9:c.27358G>A (TTN) | ENSP00000352154.5:p.Val9120Ile | |
| ENST00000460472.6:c.26983G>A (TTN) | ENSP00000434586.1:p.Val8995Ile | |
| ENST00000589042.5:c.54178G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18060Ile | |
| ENST00000591111.5:c.49255G>A (TTN) | ENSP00000465570.1:p.Val16419Ile | |
| ENST00000615779.4:c.49255G>A (TTN) | ENSP00000483597.1:p.Val16419Ile | |
| NM_001256850.1:c.49255G>A (TTN) | NP_001243779.1:p.Val16419Ile | |
| NM_001267550.2:c.54178G>A (TTN) MANE Select | NP_001254479.2:p.Val18060Ile | |
| NM_003319.4:c.26983G>A (TTN) | NP_003310.4:p.Val8995Ile | |
| NM_133378.4:c.46474G>A (TTN) | NP_596869.4:p.Val15492Ile | |
| NM_133432.3:c.27358G>A (TTN) | NP_597676.3:p.Val9120Ile | |
| NM_133437.4:c.27559G>A (TTN) | NP_597681.4:p.Val9187Ile | |
| NR_038271.1:n.683-3168C>T (TTN-AS1) | ||
| NR_038272.1:n.4186C>T (TTN-AS1) | ||
| XM_011511729.1:c.53275G>A (TTN) | XP_011510031.1:p.Val17759Ile | |
| XM_011511730.1:c.27169G>A (TTN) | XP_011510032.1:p.Val9057Ile | |
| XM_011511731.1:c.27028G>A (TTN) | XP_011510033.1:p.Val9010Ile | |
| XM_017004819.1:c.53071G>A (TTN) | XP_016860308.1:p.Val17691Ile | |
| XM_017004820.1:c.48469G>A (TTN) | XP_016860309.1:p.Val16157Ile | |
| XM_017004821.1:c.48466G>A (TTN) | XP_016860310.1:p.Val16156Ile | |
| XM_017004822.1:c.45508G>A (TTN) | XP_016860311.1:p.Val15170Ile | |
| XM_017004823.1:c.27124G>A (TTN) | XP_016860312.1:p.Val9042Ile | |
| XM_024453094.1:c.48619G>A (TTN) | XP_024308862.1:p.Val16207Ile | |
| XM_024453095.1:c.48616G>A (TTN) | XP_024308863.1:p.Val16206Ile | |
| XM_024453096.1:c.48049G>A (TTN) | XP_024308864.1:p.Val16017Ile | |
| XM_024453097.1:c.45391G>A (TTN) | XP_024308865.1:p.Val15131Ile | |
| XM_024453098.1:c.45310G>A (TTN) | XP_024308866.1:p.Val15104Ile | |
| XM_024453099.1:c.27073G>A (TTN) | XP_024308867.1:p.Val9025Ile | |
| XM_024453100.1:c.16927G>A (TTN) | XP_024308868.1:p.Val5643Ile |