Linked Data
ClinVar Variation Id:
263537
ClinVar RCV Id:
RCV000248976
RCV000554723
RCV000601154
RCV001128848
RCV001131506
RCV001131507
RCV001131508
RCV001128847
RCV001705385
dbSNP Id:
rs370480927
ExAC:
2:179435667 A / G
gnomAD v2:
2-179435667-A-G
gnomAD v3:
2-178570940-A-G
gnomAD v4:
2-178570940-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570940A>G , CM000664.2:g.178570940A>G | GRCh38 |
| NC_000002.11:g.179435667A>G , CM000664.1:g.179435667A>G | GRCh37 |
| NC_000002.10:g.179143913A>G | NCBI36 |
| NG_011618.3:g.264863T>C , LRG_391:g.264863T>C | |
| NG_051363.1:g.53114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67488T>C (TTN) | ENSP00000343764.6:p.Thr22496= | |
| ENST00000342175.11:c.48573T>C (TTN) | ENSP00000340554.6:p.Thr16191= | |
| ENST00000359218.10:c.48372T>C (TTN) | ENSP00000352154.5:p.Thr16124= | |
| ENST00000342175.10:c.48573T>C (TTN) | ENSP00000340554.6:p.Thr16191= | |
| ENST00000342992.10:c.67488T>C (TTN) | ENSP00000343764.6:p.Thr22496= | |
| ENST00000359218.9:c.48372T>C (TTN) | ENSP00000352154.5:p.Thr16124= | |
| ENST00000460472.6:c.47997T>C (TTN) | ENSP00000434586.1:p.Thr15999= | |
| ENST00000589042.5:c.75192T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr25064= | |
| ENST00000591111.5:c.70269T>C (TTN) | ENSP00000465570.1:p.Thr23423= | |
| ENST00000615779.4:c.70269T>C (TTN) | ENSP00000483597.1:p.Thr23423= | |
| NM_001256850.1:c.70269T>C (TTN) | NP_001243779.1:p.Thr23423= | |
| NM_001267550.2:c.75192T>C (TTN) MANE Select | NP_001254479.2:p.Thr25064= | |
| NM_003319.4:c.47997T>C (TTN) | NP_003310.4:p.Thr15999= | |
| NM_133378.4:c.67488T>C (TTN) | NP_596869.4:p.Thr22496= | |
| NM_133432.3:c.48372T>C (TTN) | NP_597676.3:p.Thr16124= | |
| NM_133437.4:c.48573T>C (TTN) | NP_597681.4:p.Thr16191= | |
| NR_038271.1:n.447-360A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-11632A>G (TTN-AS1) | ||
| XM_011511729.1:c.74289T>C (TTN) | XP_011510031.1:p.Thr24763= | |
| XM_011511730.1:c.48183T>C (TTN) | XP_011510032.1:p.Thr16061= | |
| XM_011511731.1:c.48042T>C (TTN) | XP_011510033.1:p.Thr16014= | |
| XM_017004819.1:c.74085T>C (TTN) | XP_016860308.1:p.Thr24695= | |
| XM_017004820.1:c.69483T>C (TTN) | XP_016860309.1:p.Thr23161= | |
| XM_017004821.1:c.69480T>C (TTN) | XP_016860310.1:p.Thr23160= | |
| XM_017004822.1:c.66522T>C (TTN) | XP_016860311.1:p.Thr22174= | |
| XM_017004823.1:c.48138T>C (TTN) | XP_016860312.1:p.Thr16046= | |
| XM_024453094.1:c.69633T>C (TTN) | XP_024308862.1:p.Thr23211= | |
| XM_024453095.1:c.69630T>C (TTN) | XP_024308863.1:p.Thr23210= | |
| XM_024453096.1:c.69063T>C (TTN) | XP_024308864.1:p.Thr23021= | |
| XM_024453097.1:c.66405T>C (TTN) | XP_024308865.1:p.Thr22135= | |
| XM_024453098.1:c.66324T>C (TTN) | XP_024308866.1:p.Thr22108= | |
| XM_024453099.1:c.48087T>C (TTN) | XP_024308867.1:p.Thr16029= | |
| XM_024453100.1:c.37941T>C (TTN) | XP_024308868.1:p.Thr12647= |