Linked Data
ClinVar Variation Id:
413057
ClinVar RCV Id:
RCV000464314
RCV001134516
RCV001134517
RCV001134518
RCV001134520
RCV001134519
RCV002436475
RCV003235232
dbSNP Id:
rs397517620
gnomAD v4:
2-178604051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604051A>G , CM000664.2:g.178604051A>G | GRCh38 |
| NC_000002.11:g.179468778A>G , CM000664.1:g.179468778A>G | GRCh37 |
| NC_000002.10:g.179177023A>G | NCBI36 |
| NG_011618.3:g.231752T>C , LRG_391:g.231752T>C | |
| NG_051363.1:g.86225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46932T>C (TTN) | ENSP00000343764.6:p.Tyr15644= | |
| ENST00000342175.11:c.28017T>C (TTN) | ENSP00000340554.6:p.Tyr9339= | |
| ENST00000359218.10:c.27816T>C (TTN) | ENSP00000352154.5:p.Tyr9272= | |
| ENST00000342175.10:c.28017T>C (TTN) | ENSP00000340554.6:p.Tyr9339= | |
| ENST00000342992.10:c.46932T>C (TTN) | ENSP00000343764.6:p.Tyr15644= | |
| ENST00000359218.9:c.27816T>C (TTN) | ENSP00000352154.5:p.Tyr9272= | |
| ENST00000460472.6:c.27441T>C (TTN) | ENSP00000434586.1:p.Tyr9147= | |
| ENST00000589042.5:c.54636T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr18212= | |
| ENST00000591111.5:c.49713T>C (TTN) | ENSP00000465570.1:p.Tyr16571= | |
| ENST00000615779.4:c.49713T>C (TTN) | ENSP00000483597.1:p.Tyr16571= | |
| NM_001256850.1:c.49713T>C (TTN) | NP_001243779.1:p.Tyr16571= | |
| NM_001267550.2:c.54636T>C (TTN) MANE Select | NP_001254479.2:p.Tyr18212= | |
| NM_003319.4:c.27441T>C (TTN) | NP_003310.4:p.Tyr9147= | |
| NM_133378.4:c.46932T>C (TTN) | NP_596869.4:p.Tyr15644= | |
| NM_133432.3:c.27816T>C (TTN) | NP_597676.3:p.Tyr9272= | |
| NM_133437.4:c.28017T>C (TTN) | NP_597681.4:p.Tyr9339= | |
| NR_038271.1:n.683-4116A>G (TTN-AS1) | ||
| NR_038272.1:n.3918-680A>G (TTN-AS1) | ||
| XM_011511729.1:c.53733T>C (TTN) | XP_011510031.1:p.Tyr17911= | |
| XM_011511730.1:c.27627T>C (TTN) | XP_011510032.1:p.Tyr9209= | |
| XM_011511731.1:c.27486T>C (TTN) | XP_011510033.1:p.Tyr9162= | |
| XM_017004819.1:c.53529T>C (TTN) | XP_016860308.1:p.Tyr17843= | |
| XM_017004820.1:c.48927T>C (TTN) | XP_016860309.1:p.Tyr16309= | |
| XM_017004821.1:c.48924T>C (TTN) | XP_016860310.1:p.Tyr16308= | |
| XM_017004822.1:c.45966T>C (TTN) | XP_016860311.1:p.Tyr15322= | |
| XM_017004823.1:c.27582T>C (TTN) | XP_016860312.1:p.Tyr9194= | |
| XM_024453094.1:c.49077T>C (TTN) | XP_024308862.1:p.Tyr16359= | |
| XM_024453095.1:c.49074T>C (TTN) | XP_024308863.1:p.Tyr16358= | |
| XM_024453096.1:c.48507T>C (TTN) | XP_024308864.1:p.Tyr16169= | |
| XM_024453097.1:c.45849T>C (TTN) | XP_024308865.1:p.Tyr15283= | |
| XM_024453098.1:c.45768T>C (TTN) | XP_024308866.1:p.Tyr15256= | |
| XM_024453099.1:c.27531T>C (TTN) | XP_024308867.1:p.Tyr9177= | |
| XM_024453100.1:c.17385T>C (TTN) | XP_024308868.1:p.Tyr5795= |