Linked Data
ClinVar Variation Id:
47561
ClinVar RCV Id:
RCV000040830
RCV000172615
RCV000270075
RCV000292373
RCV000349608
RCV000327509
RCV000380825
RCV000621105
RCV000769875
RCV000852785
RCV001085084
RCV004534945
dbSNP Id:
rs72648263
ExAC:
2:179410184 C / T
gnomAD v2:
2-179410184-C-T
gnomAD v3:
2-178545457-C-T
gnomAD v4:
2-178545457-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545457C>T , CM000664.2:g.178545457C>T | GRCh38 |
| NC_000002.11:g.179410184C>T , CM000664.1:g.179410184C>T | GRCh37 |
| NC_000002.10:g.179118430C>T | NCBI36 |
| NG_011618.3:g.290346G>A , LRG_391:g.290346G>A | |
| NG_051363.1:g.27631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87949G>A (TTN) | ENSP00000343764.6:p.Ala29317Thr | |
| ENST00000342175.11:c.69034G>A (TTN) | ENSP00000340554.6:p.Ala23012Thr | |
| ENST00000359218.10:c.68833G>A (TTN) | ENSP00000352154.5:p.Ala22945Thr | |
| ENST00000342175.10:c.69034G>A (TTN) | ENSP00000340554.6:p.Ala23012Thr | |
| ENST00000342992.10:c.87949G>A (TTN) | ENSP00000343764.6:p.Ala29317Thr | |
| ENST00000359218.9:c.68833G>A (TTN) | ENSP00000352154.5:p.Ala22945Thr | |
| ENST00000460472.6:c.68458G>A (TTN) | ENSP00000434586.1:p.Ala22820Thr | |
| ENST00000589042.5:c.95653G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala31885Thr | |
| ENST00000591111.5:c.90730G>A (TTN) | ENSP00000465570.1:p.Ala30244Thr | |
| ENST00000615779.4:c.90730G>A (TTN) | ENSP00000483597.1:p.Ala30244Thr | |
| NM_001256850.1:c.90730G>A (TTN) | NP_001243779.1:p.Ala30244Thr | |
| NM_001267550.2:c.95653G>A (TTN) MANE Select | NP_001254479.2:p.Ala31885Thr | |
| NM_003319.4:c.68458G>A (TTN) | NP_003310.4:p.Ala22820Thr | |
| NM_133378.4:c.87949G>A (TTN) | NP_596869.4:p.Ala29317Thr | |
| NM_133432.3:c.68833G>A (TTN) | NP_597676.3:p.Ala22945Thr | |
| NM_133437.4:c.69034G>A (TTN) | NP_597681.4:p.Ala23012Thr | |
| NR_038271.1:n.446+21821C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3096C>T (TTN-AS1) | ||
| XM_011511729.1:c.94750G>A (TTN) | XP_011510031.1:p.Ala31584Thr | |
| XM_011511730.1:c.68644G>A (TTN) | XP_011510032.1:p.Ala22882Thr | |
| XM_011511731.1:c.68503G>A (TTN) | XP_011510033.1:p.Ala22835Thr | |
| XM_017004819.1:c.94546G>A (TTN) | XP_016860308.1:p.Ala31516Thr | |
| XM_017004820.1:c.89944G>A (TTN) | XP_016860309.1:p.Ala29982Thr | |
| XM_017004821.1:c.89941G>A (TTN) | XP_016860310.1:p.Ala29981Thr | |
| XM_017004822.1:c.86983G>A (TTN) | XP_016860311.1:p.Ala28995Thr | |
| XM_017004823.1:c.68599G>A (TTN) | XP_016860312.1:p.Ala22867Thr | |
| XM_024453094.1:c.90094G>A (TTN) | XP_024308862.1:p.Ala30032Thr | |
| XM_024453095.1:c.90091G>A (TTN) | XP_024308863.1:p.Ala30031Thr | |
| XM_024453096.1:c.89524G>A (TTN) | XP_024308864.1:p.Ala29842Thr | |
| XM_024453097.1:c.86866G>A (TTN) | XP_024308865.1:p.Ala28956Thr | |
| XM_024453098.1:c.86785G>A (TTN) | XP_024308866.1:p.Ala28929Thr | |
| XM_024453099.1:c.68548G>A (TTN) | XP_024308867.1:p.Ala22850Thr | |
| XM_024453100.1:c.58402G>A (TTN) | XP_024308868.1:p.Ala19468Thr |