Linked Data
ClinVar Variation Id:
284558
ClinVar RCV Id:
RCV000326060
RCV001089009
RCV001131264
RCV001131265
RCV001131266
RCV001131267
RCV001131268
RCV002365313
dbSNP Id:
rs746569192
ExAC:
2:179418107 G / A
gnomAD v2:
2-179418107-G-A
gnomAD v3:
2-178553380-G-A
gnomAD v4:
2-178553380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553380G>A , CM000664.2:g.178553380G>A | GRCh38 |
| NC_000002.11:g.179418107G>A , CM000664.1:g.179418107G>A | GRCh37 |
| NC_000002.10:g.179126353G>A | NCBI36 |
| NG_011618.3:g.282423C>T , LRG_391:g.282423C>T | |
| NG_051363.1:g.35554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81816C>T (TTN) | ENSP00000343764.6:p.Asp27272= | |
| ENST00000342175.11:c.62901C>T (TTN) | ENSP00000340554.6:p.Asp20967= | |
| ENST00000359218.10:c.62700C>T (TTN) | ENSP00000352154.5:p.Asp20900= | |
| ENST00000342175.10:c.62901C>T (TTN) | ENSP00000340554.6:p.Asp20967= | |
| ENST00000342992.10:c.81816C>T (TTN) | ENSP00000343764.6:p.Asp27272= | |
| ENST00000359218.9:c.62700C>T (TTN) | ENSP00000352154.5:p.Asp20900= | |
| ENST00000460472.6:c.62325C>T (TTN) | ENSP00000434586.1:p.Asp20775= | |
| ENST00000589042.5:c.89520C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp29840= | |
| ENST00000591111.5:c.84597C>T (TTN) | ENSP00000465570.1:p.Asp28199= | |
| ENST00000615779.4:c.84597C>T (TTN) | ENSP00000483597.1:p.Asp28199= | |
| NM_001256850.1:c.84597C>T (TTN) | NP_001243779.1:p.Asp28199= | |
| NM_001267550.2:c.89520C>T (TTN) MANE Select | NP_001254479.2:p.Asp29840= | |
| NM_003319.4:c.62325C>T (TTN) | NP_003310.4:p.Asp20775= | |
| NM_133378.4:c.81816C>T (TTN) | NP_596869.4:p.Asp27272= | |
| NM_133432.3:c.62700C>T (TTN) | NP_597676.3:p.Asp20900= | |
| NM_133437.4:c.62901C>T (TTN) | NP_597681.4:p.Asp20967= | |
| NR_038271.1:n.447-17920G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+11019G>A (TTN-AS1) | ||
| XM_011511729.1:c.88617C>T (TTN) | XP_011510031.1:p.Asp29539= | |
| XM_011511730.1:c.62511C>T (TTN) | XP_011510032.1:p.Asp20837= | |
| XM_011511731.1:c.62370C>T (TTN) | XP_011510033.1:p.Asp20790= | |
| XM_017004819.1:c.88413C>T (TTN) | XP_016860308.1:p.Asp29471= | |
| XM_017004820.1:c.83811C>T (TTN) | XP_016860309.1:p.Asp27937= | |
| XM_017004821.1:c.83808C>T (TTN) | XP_016860310.1:p.Asp27936= | |
| XM_017004822.1:c.80850C>T (TTN) | XP_016860311.1:p.Asp26950= | |
| XM_017004823.1:c.62466C>T (TTN) | XP_016860312.1:p.Asp20822= | |
| XM_024453094.1:c.83961C>T (TTN) | XP_024308862.1:p.Asp27987= | |
| XM_024453095.1:c.83958C>T (TTN) | XP_024308863.1:p.Asp27986= | |
| XM_024453096.1:c.83391C>T (TTN) | XP_024308864.1:p.Asp27797= | |
| XM_024453097.1:c.80733C>T (TTN) | XP_024308865.1:p.Asp26911= | |
| XM_024453098.1:c.80652C>T (TTN) | XP_024308866.1:p.Asp26884= | |
| XM_024453099.1:c.62415C>T (TTN) | XP_024308867.1:p.Asp20805= | |
| XM_024453100.1:c.52269C>T (TTN) | XP_024308868.1:p.Asp17423= |