Linked Data
ClinVar Variation Id:
497862
dbSNP Id:
rs768064912
ExAC:
2:179438745 C / T
gnomAD v2:
2-179438745-C-T
gnomAD v3:
2-178574018-C-T
gnomAD v4:
2-178574018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574018C>T , CM000664.2:g.178574018C>T | GRCh38 |
| NC_000002.11:g.179438745C>T , CM000664.1:g.179438745C>T | GRCh37 |
| NC_000002.10:g.179146991C>T | NCBI36 |
| NG_011618.3:g.261785G>A , LRG_391:g.261785G>A | |
| NG_051363.1:g.56192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64410G>A (TTN) | ENSP00000343764.6:p.Thr21470= | |
| ENST00000342175.11:c.45495G>A (TTN) | ENSP00000340554.6:p.Thr15165= | |
| ENST00000359218.10:c.45294G>A (TTN) | ENSP00000352154.5:p.Thr15098= | |
| ENST00000342175.10:c.45495G>A (TTN) | ENSP00000340554.6:p.Thr15165= | |
| ENST00000342992.10:c.64410G>A (TTN) | ENSP00000343764.6:p.Thr21470= | |
| ENST00000359218.9:c.45294G>A (TTN) | ENSP00000352154.5:p.Thr15098= | |
| ENST00000460472.6:c.44919G>A (TTN) | ENSP00000434586.1:p.Thr14973= | |
| ENST00000589042.5:c.72114G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr24038= | |
| ENST00000591111.5:c.67191G>A (TTN) | ENSP00000465570.1:p.Thr22397= | |
| ENST00000615779.4:c.67191G>A (TTN) | ENSP00000483597.1:p.Thr22397= | |
| NM_001256850.1:c.67191G>A (TTN) | NP_001243779.1:p.Thr22397= | |
| NM_001267550.2:c.72114G>A (TTN) MANE Select | NP_001254479.2:p.Thr24038= | |
| NM_003319.4:c.44919G>A (TTN) | NP_003310.4:p.Thr14973= | |
| NM_133378.4:c.64410G>A (TTN) | NP_596869.4:p.Thr21470= | |
| NM_133432.3:c.45294G>A (TTN) | NP_597676.3:p.Thr15098= | |
| NM_133437.4:c.45495G>A (TTN) | NP_597681.4:p.Thr15165= | |
| NR_038271.1:n.596+2569C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8554C>T (TTN-AS1) | ||
| XM_011511729.1:c.71211G>A (TTN) | XP_011510031.1:p.Thr23737= | |
| XM_011511730.1:c.45105G>A (TTN) | XP_011510032.1:p.Thr15035= | |
| XM_011511731.1:c.44964G>A (TTN) | XP_011510033.1:p.Thr14988= | |
| XM_017004819.1:c.71007G>A (TTN) | XP_016860308.1:p.Thr23669= | |
| XM_017004820.1:c.66405G>A (TTN) | XP_016860309.1:p.Thr22135= | |
| XM_017004821.1:c.66402G>A (TTN) | XP_016860310.1:p.Thr22134= | |
| XM_017004822.1:c.63444G>A (TTN) | XP_016860311.1:p.Thr21148= | |
| XM_017004823.1:c.45060G>A (TTN) | XP_016860312.1:p.Thr15020= | |
| XM_024453094.1:c.66555G>A (TTN) | XP_024308862.1:p.Thr22185= | |
| XM_024453095.1:c.66552G>A (TTN) | XP_024308863.1:p.Thr22184= | |
| XM_024453096.1:c.65985G>A (TTN) | XP_024308864.1:p.Thr21995= | |
| XM_024453097.1:c.63327G>A (TTN) | XP_024308865.1:p.Thr21109= | |
| XM_024453098.1:c.63246G>A (TTN) | XP_024308866.1:p.Thr21082= | |
| XM_024453099.1:c.45009G>A (TTN) | XP_024308867.1:p.Thr15003= | |
| XM_024453100.1:c.34863G>A (TTN) | XP_024308868.1:p.Thr11621= |