Linked Data
ClinVar Variation Id:
535024
ClinVar RCV Id:
RCV000642781
RCV001131741
RCV001131742
RCV001131743
RCV001131744
RCV001131745
RCV002473086
RCV003162901
dbSNP Id:
rs746787955
ExAC:
2:179410973 C / A
gnomAD v2:
2-179410973-C-A
gnomAD v3:
2-178546246-C-A
gnomAD v4:
2-178546246-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546246C>A , CM000664.2:g.178546246C>A | GRCh38 |
| NC_000002.11:g.179410973C>A , CM000664.1:g.179410973C>A | GRCh37 |
| NC_000002.10:g.179119219C>A | NCBI36 |
| NG_011618.3:g.289557G>T , LRG_391:g.289557G>T | |
| NG_051363.1:g.28420C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87381G>T (TTN) | ENSP00000343764.6:p.Gly29127= | |
| ENST00000342175.11:c.68466G>T (TTN) | ENSP00000340554.6:p.Gly22822= | |
| ENST00000359218.10:c.68265G>T (TTN) | ENSP00000352154.5:p.Gly22755= | |
| ENST00000342175.10:c.68466G>T (TTN) | ENSP00000340554.6:p.Gly22822= | |
| ENST00000342992.10:c.87381G>T (TTN) | ENSP00000343764.6:p.Gly29127= | |
| ENST00000359218.9:c.68265G>T (TTN) | ENSP00000352154.5:p.Gly22755= | |
| ENST00000460472.6:c.67890G>T (TTN) | ENSP00000434586.1:p.Gly22630= | |
| ENST00000589042.5:c.95085G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly31695= | |
| ENST00000591111.5:c.90162G>T (TTN) | ENSP00000465570.1:p.Gly30054= | |
| ENST00000615779.4:c.90162G>T (TTN) | ENSP00000483597.1:p.Gly30054= | |
| NM_001256850.1:c.90162G>T (TTN) | NP_001243779.1:p.Gly30054= | |
| NM_001267550.2:c.95085G>T (TTN) MANE Select | NP_001254479.2:p.Gly31695= | |
| NM_003319.4:c.67890G>T (TTN) | NP_003310.4:p.Gly22630= | |
| NM_133378.4:c.87381G>T (TTN) | NP_596869.4:p.Gly29127= | |
| NM_133432.3:c.68265G>T (TTN) | NP_597676.3:p.Gly22755= | |
| NM_133437.4:c.68466G>T (TTN) | NP_597681.4:p.Gly22822= | |
| NR_038271.1:n.446+22610C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3885C>A (TTN-AS1) | ||
| XM_011511729.1:c.94182G>T (TTN) | XP_011510031.1:p.Gly31394= | |
| XM_011511730.1:c.68076G>T (TTN) | XP_011510032.1:p.Gly22692= | |
| XM_011511731.1:c.67935G>T (TTN) | XP_011510033.1:p.Gly22645= | |
| XM_017004819.1:c.93978G>T (TTN) | XP_016860308.1:p.Gly31326= | |
| XM_017004820.1:c.89376G>T (TTN) | XP_016860309.1:p.Gly29792= | |
| XM_017004821.1:c.89373G>T (TTN) | XP_016860310.1:p.Gly29791= | |
| XM_017004822.1:c.86415G>T (TTN) | XP_016860311.1:p.Gly28805= | |
| XM_017004823.1:c.68031G>T (TTN) | XP_016860312.1:p.Gly22677= | |
| XM_024453094.1:c.89526G>T (TTN) | XP_024308862.1:p.Gly29842= | |
| XM_024453095.1:c.89523G>T (TTN) | XP_024308863.1:p.Gly29841= | |
| XM_024453096.1:c.88956G>T (TTN) | XP_024308864.1:p.Gly29652= | |
| XM_024453097.1:c.86298G>T (TTN) | XP_024308865.1:p.Gly28766= | |
| XM_024453098.1:c.86217G>T (TTN) | XP_024308866.1:p.Gly28739= | |
| XM_024453099.1:c.67980G>T (TTN) | XP_024308867.1:p.Gly22660= | |
| XM_024453100.1:c.57834G>T (TTN) | XP_024308868.1:p.Gly19278= |