Linked Data
ClinVar Variation Id:
47497
ClinVar RCV Id:
RCV000040766
RCV000082444
RCV000269727
RCV000320246
RCV000364179
RCV000310741
RCV000365525
RCV000617583
RCV000852796
RCV001083905
RCV001798194
dbSNP Id:
rs149567378
ExAC:
2:179417091 C / T
gnomAD v2:
2-179417091-C-T
gnomAD v3:
2-178552364-C-T
gnomAD v4:
2-178552364-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552364C>T , CM000664.2:g.178552364C>T | GRCh38 |
| NC_000002.11:g.179417091C>T , CM000664.1:g.179417091C>T | GRCh37 |
| NC_000002.10:g.179125337C>T | NCBI36 |
| NG_011618.3:g.283439G>A , LRG_391:g.283439G>A | |
| NG_051363.1:g.34538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82832G>A (TTN) | ENSP00000343764.6:p.Arg27611His | |
| ENST00000342175.11:c.63917G>A (TTN) | ENSP00000340554.6:p.Arg21306His | |
| ENST00000359218.10:c.63716G>A (TTN) | ENSP00000352154.5:p.Arg21239His | |
| ENST00000342175.10:c.63917G>A (TTN) | ENSP00000340554.6:p.Arg21306His | |
| ENST00000342992.10:c.82832G>A (TTN) | ENSP00000343764.6:p.Arg27611His | |
| ENST00000359218.9:c.63716G>A (TTN) | ENSP00000352154.5:p.Arg21239His | |
| ENST00000460472.6:c.63341G>A (TTN) | ENSP00000434586.1:p.Arg21114His | |
| ENST00000589042.5:c.90536G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg30179His | |
| ENST00000591111.5:c.85613G>A (TTN) | ENSP00000465570.1:p.Arg28538His | |
| ENST00000615779.4:c.85613G>A (TTN) | ENSP00000483597.1:p.Arg28538His | |
| NM_001256850.1:c.85613G>A (TTN) | NP_001243779.1:p.Arg28538His | |
| NM_001267550.2:c.90536G>A (TTN) MANE Select | NP_001254479.2:p.Arg30179His | |
| NM_003319.4:c.63341G>A (TTN) | NP_003310.4:p.Arg21114His | |
| NM_133378.4:c.82832G>A (TTN) | NP_596869.4:p.Arg27611His | |
| NM_133432.3:c.63716G>A (TTN) | NP_597676.3:p.Arg21239His | |
| NM_133437.4:c.63917G>A (TTN) | NP_597681.4:p.Arg21306His | |
| NR_038271.1:n.447-18936C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+10003C>T (TTN-AS1) | ||
| XM_011511729.1:c.89633G>A (TTN) | XP_011510031.1:p.Arg29878His | |
| XM_011511730.1:c.63527G>A (TTN) | XP_011510032.1:p.Arg21176His | |
| XM_011511731.1:c.63386G>A (TTN) | XP_011510033.1:p.Arg21129His | |
| XM_017004819.1:c.89429G>A (TTN) | XP_016860308.1:p.Arg29810His | |
| XM_017004820.1:c.84827G>A (TTN) | XP_016860309.1:p.Arg28276His | |
| XM_017004821.1:c.84824G>A (TTN) | XP_016860310.1:p.Arg28275His | |
| XM_017004822.1:c.81866G>A (TTN) | XP_016860311.1:p.Arg27289His | |
| XM_017004823.1:c.63482G>A (TTN) | XP_016860312.1:p.Arg21161His | |
| XM_024453094.1:c.84977G>A (TTN) | XP_024308862.1:p.Arg28326His | |
| XM_024453095.1:c.84974G>A (TTN) | XP_024308863.1:p.Arg28325His | |
| XM_024453096.1:c.84407G>A (TTN) | XP_024308864.1:p.Arg28136His | |
| XM_024453097.1:c.81749G>A (TTN) | XP_024308865.1:p.Arg27250His | |
| XM_024453098.1:c.81668G>A (TTN) | XP_024308866.1:p.Arg27223His | |
| XM_024453099.1:c.63431G>A (TTN) | XP_024308867.1:p.Arg21144His | |
| XM_024453100.1:c.53285G>A (TTN) | XP_024308868.1:p.Arg17762His |