Linked Data
ClinVar Variation Id:
178154
ClinVar RCV Id:
RCV000154871
RCV000473183
RCV001840131
RCV001840132
RCV003137669
RCV001840133
RCV001840134
RCV004534967
RCV002399546
dbSNP Id:
rs144094650
ExAC:
2:179396750 C / T
gnomAD v2:
2-179396750-C-T
gnomAD v3:
2-178532023-C-T
gnomAD v4:
2-178532023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532023C>T , CM000664.2:g.178532023C>T | GRCh38 |
| NC_000002.11:g.179396750C>T , CM000664.1:g.179396750C>T | GRCh37 |
| NC_000002.10:g.179104996C>T | NCBI36 |
| NG_011618.3:g.303780G>A , LRG_391:g.303780G>A | |
| NG_051363.1:g.14197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96888G>A (TTN) | ENSP00000343764.6:p.Pro32296= | |
| ENST00000342175.11:c.77973G>A (TTN) | ENSP00000340554.6:p.Pro25991= | |
| ENST00000359218.10:c.77772G>A (TTN) | ENSP00000352154.5:p.Pro25924= | |
| ENST00000342175.10:c.77973G>A (TTN) | ENSP00000340554.6:p.Pro25991= | |
| ENST00000342992.10:c.96888G>A (TTN) | ENSP00000343764.6:p.Pro32296= | |
| ENST00000359218.9:c.77772G>A (TTN) | ENSP00000352154.5:p.Pro25924= | |
| ENST00000460472.6:c.77397G>A (TTN) | ENSP00000434586.1:p.Pro25799= | |
| ENST00000589042.5:c.104592G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro34864= | |
| ENST00000591111.5:c.99669G>A (TTN) | ENSP00000465570.1:p.Pro33223= | |
| ENST00000615779.4:c.99669G>A (TTN) | ENSP00000483597.1:p.Pro33223= | |
| NM_001256850.1:c.99669G>A (TTN) | NP_001243779.1:p.Pro33223= | |
| NM_001267550.2:c.104592G>A (TTN) MANE Select | NP_001254479.2:p.Pro34864= | |
| NM_003319.4:c.77397G>A (TTN) | NP_003310.4:p.Pro25799= | |
| NM_133378.4:c.96888G>A (TTN) | NP_596869.4:p.Pro32296= | |
| NM_133432.3:c.77772G>A (TTN) | NP_597676.3:p.Pro25924= | |
| NM_133437.4:c.77973G>A (TTN) | NP_597681.4:p.Pro25991= | |
| NR_038271.1:n.446+8387C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3709C>T (TTN-AS1) | ||
| XM_011511729.1:c.103689G>A (TTN) | XP_011510031.1:p.Pro34563= | |
| XM_011511730.1:c.77583G>A (TTN) | XP_011510032.1:p.Pro25861= | |
| XM_011511731.1:c.77442G>A (TTN) | XP_011510033.1:p.Pro25814= | |
| XM_017004819.1:c.103485G>A (TTN) | XP_016860308.1:p.Pro34495= | |
| XM_017004820.1:c.98883G>A (TTN) | XP_016860309.1:p.Pro32961= | |
| XM_017004821.1:c.98880G>A (TTN) | XP_016860310.1:p.Pro32960= | |
| XM_017004822.1:c.95922G>A (TTN) | XP_016860311.1:p.Pro31974= | |
| XM_017004823.1:c.77538G>A (TTN) | XP_016860312.1:p.Pro25846= | |
| XM_024453094.1:c.99033G>A (TTN) | XP_024308862.1:p.Pro33011= | |
| XM_024453095.1:c.99030G>A (TTN) | XP_024308863.1:p.Pro33010= | |
| XM_024453096.1:c.98463G>A (TTN) | XP_024308864.1:p.Pro32821= | |
| XM_024453097.1:c.95805G>A (TTN) | XP_024308865.1:p.Pro31935= | |
| XM_024453098.1:c.95724G>A (TTN) | XP_024308866.1:p.Pro31908= | |
| XM_024453099.1:c.77487G>A (TTN) | XP_024308867.1:p.Pro25829= | |
| XM_024453100.1:c.67341G>A (TTN) | XP_024308868.1:p.Pro22447= |