Linked Data
ClinVar Variation Id:
282429
ClinVar RCV Id:
RCV000330674
RCV000539619
RCV001130051
RCV001130748
RCV001130749
RCV002365301
RCV003486801
RCV001130050
RCV001130052
dbSNP Id:
rs371645048
ExAC:
2:179407002 C / T
gnomAD v2:
2-179407002-C-T
gnomAD v3:
2-178542275-C-T
gnomAD v4:
2-178542275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542275C>T , CM000664.2:g.178542275C>T | GRCh38 |
| NC_000002.11:g.179407002C>T , CM000664.1:g.179407002C>T | GRCh37 |
| NC_000002.10:g.179115248C>T | NCBI36 |
| NG_011618.3:g.293528G>A , LRG_391:g.293528G>A | |
| NG_051363.1:g.24449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89777G>A (TTN) | ENSP00000343764.6:p.Arg29926His | |
| ENST00000342175.11:c.70862G>A (TTN) | ENSP00000340554.6:p.Arg23621His | |
| ENST00000359218.10:c.70661G>A (TTN) | ENSP00000352154.5:p.Arg23554His | |
| ENST00000342175.10:c.70862G>A (TTN) | ENSP00000340554.6:p.Arg23621His | |
| ENST00000342992.10:c.89777G>A (TTN) | ENSP00000343764.6:p.Arg29926His | |
| ENST00000359218.9:c.70661G>A (TTN) | ENSP00000352154.5:p.Arg23554His | |
| ENST00000460472.6:c.70286G>A (TTN) | ENSP00000434586.1:p.Arg23429His | |
| ENST00000589042.5:c.97481G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32494His | |
| ENST00000591111.5:c.92558G>A (TTN) | ENSP00000465570.1:p.Arg30853His | |
| ENST00000615779.4:c.92558G>A (TTN) | ENSP00000483597.1:p.Arg30853His | |
| NM_001256850.1:c.92558G>A (TTN) | NP_001243779.1:p.Arg30853His | |
| NM_001267550.2:c.97481G>A (TTN) MANE Select | NP_001254479.2:p.Arg32494His | |
| NM_003319.4:c.70286G>A (TTN) | NP_003310.4:p.Arg23429His | |
| NM_133378.4:c.89777G>A (TTN) | NP_596869.4:p.Arg29926His | |
| NM_133432.3:c.70661G>A (TTN) | NP_597676.3:p.Arg23554His | |
| NM_133437.4:c.70862G>A (TTN) | NP_597681.4:p.Arg23621His | |
| NR_038271.1:n.446+18639C>T (TTN-AS1) | ||
| NR_038272.1:n.1957C>T (TTN-AS1) | ||
| XM_011511729.1:c.96578G>A (TTN) | XP_011510031.1:p.Arg32193His | |
| XM_011511730.1:c.70472G>A (TTN) | XP_011510032.1:p.Arg23491His | |
| XM_011511731.1:c.70331G>A (TTN) | XP_011510033.1:p.Arg23444His | |
| XM_017004819.1:c.96374G>A (TTN) | XP_016860308.1:p.Arg32125His | |
| XM_017004820.1:c.91772G>A (TTN) | XP_016860309.1:p.Arg30591His | |
| XM_017004821.1:c.91769G>A (TTN) | XP_016860310.1:p.Arg30590His | |
| XM_017004822.1:c.88811G>A (TTN) | XP_016860311.1:p.Arg29604His | |
| XM_017004823.1:c.70427G>A (TTN) | XP_016860312.1:p.Arg23476His | |
| XM_024453094.1:c.91922G>A (TTN) | XP_024308862.1:p.Arg30641His | |
| XM_024453095.1:c.91919G>A (TTN) | XP_024308863.1:p.Arg30640His | |
| XM_024453096.1:c.91352G>A (TTN) | XP_024308864.1:p.Arg30451His | |
| XM_024453097.1:c.88694G>A (TTN) | XP_024308865.1:p.Arg29565His | |
| XM_024453098.1:c.88613G>A (TTN) | XP_024308866.1:p.Arg29538His | |
| XM_024453099.1:c.70376G>A (TTN) | XP_024308867.1:p.Arg23459His | |
| XM_024453100.1:c.60230G>A (TTN) | XP_024308868.1:p.Arg20077His |