Linked Data
ClinVar Variation Id:
202895
ClinVar RCV Id:
RCV000184862
RCV000323369
RCV000270696
RCV000283370
RCV000380163
RCV000322095
RCV001085916
RCV002345656
dbSNP Id:
rs530507211
ExAC:
2:179431003 C / T
gnomAD v2:
2-179431003-C-T
gnomAD v3:
2-178566276-C-T
gnomAD v4:
2-178566276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566276C>T , CM000664.2:g.178566276C>T | GRCh38 |
| NC_000002.11:g.179431003C>T , CM000664.1:g.179431003C>T | GRCh37 |
| NC_000002.10:g.179139249C>T | NCBI36 |
| NG_011618.3:g.269527G>A , LRG_391:g.269527G>A | |
| NG_051363.1:g.48450C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72152G>A (TTN) | ENSP00000343764.6:p.Arg24051His | |
| ENST00000342175.11:c.53237G>A (TTN) | ENSP00000340554.6:p.Arg17746His | |
| ENST00000359218.10:c.53036G>A (TTN) | ENSP00000352154.5:p.Arg17679His | |
| ENST00000342175.10:c.53237G>A (TTN) | ENSP00000340554.6:p.Arg17746His | |
| ENST00000342992.10:c.72152G>A (TTN) | ENSP00000343764.6:p.Arg24051His | |
| ENST00000359218.9:c.53036G>A (TTN) | ENSP00000352154.5:p.Arg17679His | |
| ENST00000460472.6:c.52661G>A (TTN) | ENSP00000434586.1:p.Arg17554His | |
| ENST00000589042.5:c.79856G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26619His | |
| ENST00000591111.5:c.74933G>A (TTN) | ENSP00000465570.1:p.Arg24978His | |
| ENST00000615779.4:c.74933G>A (TTN) | ENSP00000483597.1:p.Arg24978His | |
| NM_001256850.1:c.74933G>A (TTN) | NP_001243779.1:p.Arg24978His | |
| NM_001267550.2:c.79856G>A (TTN) MANE Select | NP_001254479.2:p.Arg26619His | |
| NM_003319.4:c.52661G>A (TTN) | NP_003310.4:p.Arg17554His | |
| NM_133378.4:c.72152G>A (TTN) | NP_596869.4:p.Arg24051His | |
| NM_133432.3:c.53036G>A (TTN) | NP_597676.3:p.Arg17679His | |
| NM_133437.4:c.53237G>A (TTN) | NP_597681.4:p.Arg17746His | |
| NR_038271.1:n.447-5024C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16296C>T (TTN-AS1) | ||
| XM_011511729.1:c.78953G>A (TTN) | XP_011510031.1:p.Arg26318His | |
| XM_011511730.1:c.52847G>A (TTN) | XP_011510032.1:p.Arg17616His | |
| XM_011511731.1:c.52706G>A (TTN) | XP_011510033.1:p.Arg17569His | |
| XM_017004819.1:c.78749G>A (TTN) | XP_016860308.1:p.Arg26250His | |
| XM_017004820.1:c.74147G>A (TTN) | XP_016860309.1:p.Arg24716His | |
| XM_017004821.1:c.74144G>A (TTN) | XP_016860310.1:p.Arg24715His | |
| XM_017004822.1:c.71186G>A (TTN) | XP_016860311.1:p.Arg23729His | |
| XM_017004823.1:c.52802G>A (TTN) | XP_016860312.1:p.Arg17601His | |
| XM_024453094.1:c.74297G>A (TTN) | XP_024308862.1:p.Arg24766His | |
| XM_024453095.1:c.74294G>A (TTN) | XP_024308863.1:p.Arg24765His | |
| XM_024453096.1:c.73727G>A (TTN) | XP_024308864.1:p.Arg24576His | |
| XM_024453097.1:c.71069G>A (TTN) | XP_024308865.1:p.Arg23690His | |
| XM_024453098.1:c.70988G>A (TTN) | XP_024308866.1:p.Arg23663His | |
| XM_024453099.1:c.52751G>A (TTN) | XP_024308867.1:p.Arg17584His | |
| XM_024453100.1:c.42605G>A (TTN) | XP_024308868.1:p.Arg14202His |