Linked Data
ClinVar Variation Id:
137812
ClinVar RCV Id:
RCV000154895
RCV000261379
RCV000301633
RCV000316581
RCV000358783
RCV000395547
RCV000474541
RCV001083779
RCV000769881
RCV002362760
RCV004544258
dbSNP Id:
rs202185465
ExAC:
2:179415701 A / G
gnomAD v2:
2-179415701-A-G
gnomAD v3:
2-178550974-A-G
gnomAD v4:
2-178550974-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550974A>G , CM000664.2:g.178550974A>G | GRCh38 |
| NC_000002.11:g.179415701A>G , CM000664.1:g.179415701A>G | GRCh37 |
| NC_000002.10:g.179123947A>G | NCBI36 |
| NG_011618.3:g.284829T>C , LRG_391:g.284829T>C | |
| NG_051363.1:g.33148A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83853T>C (TTN) | ENSP00000343764.6:p.Asp27951= | |
| ENST00000342175.11:c.64938T>C (TTN) | ENSP00000340554.6:p.Asp21646= | |
| ENST00000359218.10:c.64737T>C (TTN) | ENSP00000352154.5:p.Asp21579= | |
| ENST00000342175.10:c.64938T>C (TTN) | ENSP00000340554.6:p.Asp21646= | |
| ENST00000342992.10:c.83853T>C (TTN) | ENSP00000343764.6:p.Asp27951= | |
| ENST00000359218.9:c.64737T>C (TTN) | ENSP00000352154.5:p.Asp21579= | |
| ENST00000460472.6:c.64362T>C (TTN) | ENSP00000434586.1:p.Asp21454= | |
| ENST00000589042.5:c.91557T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp30519= | |
| ENST00000591111.5:c.86634T>C (TTN) | ENSP00000465570.1:p.Asp28878= | |
| ENST00000615779.4:c.86634T>C (TTN) | ENSP00000483597.1:p.Asp28878= | |
| NM_001256850.1:c.86634T>C (TTN) | NP_001243779.1:p.Asp28878= | |
| NM_001267550.2:c.91557T>C (TTN) MANE Select | NP_001254479.2:p.Asp30519= | |
| NM_003319.4:c.64362T>C (TTN) | NP_003310.4:p.Asp21454= | |
| NM_133378.4:c.83853T>C (TTN) | NP_596869.4:p.Asp27951= | |
| NM_133432.3:c.64737T>C (TTN) | NP_597676.3:p.Asp21579= | |
| NM_133437.4:c.64938T>C (TTN) | NP_597681.4:p.Asp21646= | |
| NR_038271.1:n.447-20326A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+8613A>G (TTN-AS1) | ||
| XM_011511729.1:c.90654T>C (TTN) | XP_011510031.1:p.Asp30218= | |
| XM_011511730.1:c.64548T>C (TTN) | XP_011510032.1:p.Asp21516= | |
| XM_011511731.1:c.64407T>C (TTN) | XP_011510033.1:p.Asp21469= | |
| XM_017004819.1:c.90450T>C (TTN) | XP_016860308.1:p.Asp30150= | |
| XM_017004820.1:c.85848T>C (TTN) | XP_016860309.1:p.Asp28616= | |
| XM_017004821.1:c.85845T>C (TTN) | XP_016860310.1:p.Asp28615= | |
| XM_017004822.1:c.82887T>C (TTN) | XP_016860311.1:p.Asp27629= | |
| XM_017004823.1:c.64503T>C (TTN) | XP_016860312.1:p.Asp21501= | |
| XM_024453094.1:c.85998T>C (TTN) | XP_024308862.1:p.Asp28666= | |
| XM_024453095.1:c.85995T>C (TTN) | XP_024308863.1:p.Asp28665= | |
| XM_024453096.1:c.85428T>C (TTN) | XP_024308864.1:p.Asp28476= | |
| XM_024453097.1:c.82770T>C (TTN) | XP_024308865.1:p.Asp27590= | |
| XM_024453098.1:c.82689T>C (TTN) | XP_024308866.1:p.Asp27563= | |
| XM_024453099.1:c.64452T>C (TTN) | XP_024308867.1:p.Asp21484= | |
| XM_024453100.1:c.54306T>C (TTN) | XP_024308868.1:p.Asp18102= |