Linked Data
ClinVar Variation Id:
332722
ClinVar RCV Id:
RCV000349691
RCV000346099
RCV000292154
RCV000384378
RCV000643496
RCV002365393
RCV001729543
RCV000400307
RCV001712058
dbSNP Id:
rs752309744
ExAC:
2:179410767 C / T
gnomAD v2:
2-179410767-C-T
gnomAD v3:
2-178546040-C-T
gnomAD v4:
2-178546040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546040C>T , CM000664.2:g.178546040C>T | GRCh38 |
| NC_000002.11:g.179410767C>T , CM000664.1:g.179410767C>T | GRCh37 |
| NC_000002.10:g.179119013C>T | NCBI36 |
| NG_011618.3:g.289763G>A , LRG_391:g.289763G>A | |
| NG_051363.1:g.28214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87492G>A (TTN) | ENSP00000343764.6:p.Pro29164= | |
| ENST00000342175.11:c.68577G>A (TTN) | ENSP00000340554.6:p.Pro22859= | |
| ENST00000359218.10:c.68376G>A (TTN) | ENSP00000352154.5:p.Pro22792= | |
| ENST00000342175.10:c.68577G>A (TTN) | ENSP00000340554.6:p.Pro22859= | |
| ENST00000342992.10:c.87492G>A (TTN) | ENSP00000343764.6:p.Pro29164= | |
| ENST00000359218.9:c.68376G>A (TTN) | ENSP00000352154.5:p.Pro22792= | |
| ENST00000460472.6:c.68001G>A (TTN) | ENSP00000434586.1:p.Pro22667= | |
| ENST00000589042.5:c.95196G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro31732= | |
| ENST00000591111.5:c.90273G>A (TTN) | ENSP00000465570.1:p.Pro30091= | |
| ENST00000615779.4:c.90273G>A (TTN) | ENSP00000483597.1:p.Pro30091= | |
| NM_001256850.1:c.90273G>A (TTN) | NP_001243779.1:p.Pro30091= | |
| NM_001267550.2:c.95196G>A (TTN) MANE Select | NP_001254479.2:p.Pro31732= | |
| NM_003319.4:c.68001G>A (TTN) | NP_003310.4:p.Pro22667= | |
| NM_133378.4:c.87492G>A (TTN) | NP_596869.4:p.Pro29164= | |
| NM_133432.3:c.68376G>A (TTN) | NP_597676.3:p.Pro22792= | |
| NM_133437.4:c.68577G>A (TTN) | NP_597681.4:p.Pro22859= | |
| NR_038271.1:n.446+22404C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3679C>T (TTN-AS1) | ||
| XM_011511729.1:c.94293G>A (TTN) | XP_011510031.1:p.Pro31431= | |
| XM_011511730.1:c.68187G>A (TTN) | XP_011510032.1:p.Pro22729= | |
| XM_011511731.1:c.68046G>A (TTN) | XP_011510033.1:p.Pro22682= | |
| XM_017004819.1:c.94089G>A (TTN) | XP_016860308.1:p.Pro31363= | |
| XM_017004820.1:c.89487G>A (TTN) | XP_016860309.1:p.Pro29829= | |
| XM_017004821.1:c.89484G>A (TTN) | XP_016860310.1:p.Pro29828= | |
| XM_017004822.1:c.86526G>A (TTN) | XP_016860311.1:p.Pro28842= | |
| XM_017004823.1:c.68142G>A (TTN) | XP_016860312.1:p.Pro22714= | |
| XM_024453094.1:c.89637G>A (TTN) | XP_024308862.1:p.Pro29879= | |
| XM_024453095.1:c.89634G>A (TTN) | XP_024308863.1:p.Pro29878= | |
| XM_024453096.1:c.89067G>A (TTN) | XP_024308864.1:p.Pro29689= | |
| XM_024453097.1:c.86409G>A (TTN) | XP_024308865.1:p.Pro28803= | |
| XM_024453098.1:c.86328G>A (TTN) | XP_024308866.1:p.Pro28776= | |
| XM_024453099.1:c.68091G>A (TTN) | XP_024308867.1:p.Pro22697= | |
| XM_024453100.1:c.57945G>A (TTN) | XP_024308868.1:p.Pro19315= |