Linked Data
ClinVar Variation Id:
96316
ClinVar RCV Id:
RCV000082452
RCV000154888
RCV000263196
RCV000312560
RCV000317322
RCV000465970
RCV000355719
RCV000369634
RCV001170760
RCV002362734
RCV004529869
dbSNP Id:
rs72648259
ExAC:
2:179410693 A / G
gnomAD v2:
2-179410693-A-G
gnomAD v3:
2-178545966-A-G
gnomAD v4:
2-178545966-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545966A>G , CM000664.2:g.178545966A>G | GRCh38 |
| NC_000002.11:g.179410693A>G , CM000664.1:g.179410693A>G | GRCh37 |
| NC_000002.10:g.179118939A>G | NCBI36 |
| NG_011618.3:g.289837T>C , LRG_391:g.289837T>C | |
| NG_051363.1:g.28140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87566T>C (TTN) | ENSP00000343764.6:p.Ile29189Thr | |
| ENST00000342175.11:c.68651T>C (TTN) | ENSP00000340554.6:p.Ile22884Thr | |
| ENST00000359218.10:c.68450T>C (TTN) | ENSP00000352154.5:p.Ile22817Thr | |
| ENST00000342175.10:c.68651T>C (TTN) | ENSP00000340554.6:p.Ile22884Thr | |
| ENST00000342992.10:c.87566T>C (TTN) | ENSP00000343764.6:p.Ile29189Thr | |
| ENST00000359218.9:c.68450T>C (TTN) | ENSP00000352154.5:p.Ile22817Thr | |
| ENST00000460472.6:c.68075T>C (TTN) | ENSP00000434586.1:p.Ile22692Thr | |
| ENST00000589042.5:c.95270T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile31757Thr | |
| ENST00000591111.5:c.90347T>C (TTN) | ENSP00000465570.1:p.Ile30116Thr | |
| ENST00000615779.4:c.90347T>C (TTN) | ENSP00000483597.1:p.Ile30116Thr | |
| NM_001256850.1:c.90347T>C (TTN) | NP_001243779.1:p.Ile30116Thr | |
| NM_001267550.2:c.95270T>C (TTN) MANE Select | NP_001254479.2:p.Ile31757Thr | |
| NM_003319.4:c.68075T>C (TTN) | NP_003310.4:p.Ile22692Thr | |
| NM_133378.4:c.87566T>C (TTN) | NP_596869.4:p.Ile29189Thr | |
| NM_133432.3:c.68450T>C (TTN) | NP_597676.3:p.Ile22817Thr | |
| NM_133437.4:c.68651T>C (TTN) | NP_597681.4:p.Ile22884Thr | |
| NR_038271.1:n.446+22330A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+3605A>G (TTN-AS1) | ||
| XM_011511729.1:c.94367T>C (TTN) | XP_011510031.1:p.Ile31456Thr | |
| XM_011511730.1:c.68261T>C (TTN) | XP_011510032.1:p.Ile22754Thr | |
| XM_011511731.1:c.68120T>C (TTN) | XP_011510033.1:p.Ile22707Thr | |
| XM_017004819.1:c.94163T>C (TTN) | XP_016860308.1:p.Ile31388Thr | |
| XM_017004820.1:c.89561T>C (TTN) | XP_016860309.1:p.Ile29854Thr | |
| XM_017004821.1:c.89558T>C (TTN) | XP_016860310.1:p.Ile29853Thr | |
| XM_017004822.1:c.86600T>C (TTN) | XP_016860311.1:p.Ile28867Thr | |
| XM_017004823.1:c.68216T>C (TTN) | XP_016860312.1:p.Ile22739Thr | |
| XM_024453094.1:c.89711T>C (TTN) | XP_024308862.1:p.Ile29904Thr | |
| XM_024453095.1:c.89708T>C (TTN) | XP_024308863.1:p.Ile29903Thr | |
| XM_024453096.1:c.89141T>C (TTN) | XP_024308864.1:p.Ile29714Thr | |
| XM_024453097.1:c.86483T>C (TTN) | XP_024308865.1:p.Ile28828Thr | |
| XM_024453098.1:c.86402T>C (TTN) | XP_024308866.1:p.Ile28801Thr | |
| XM_024453099.1:c.68165T>C (TTN) | XP_024308867.1:p.Ile22722Thr | |
| XM_024453100.1:c.58019T>C (TTN) | XP_024308868.1:p.Ile19340Thr |