Linked Data
ClinVar Variation Id:
47562
dbSNP Id:
rs200648462
ExAC:
2:179408773 C / T
gnomAD v2:
2-179408773-C-T
gnomAD v3:
2-178544046-C-T
gnomAD v4:
2-178544046-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544046C>T , CM000664.2:g.178544046C>T | GRCh38 |
| NC_000002.11:g.179408773C>T , CM000664.1:g.179408773C>T | GRCh37 |
| NC_000002.10:g.179117019C>T | NCBI36 |
| NG_011618.3:g.291757G>A , LRG_391:g.291757G>A | |
| NG_051363.1:g.26220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88394G>A (TTN) | ENSP00000343764.6:p.Arg29465His | |
| ENST00000342175.11:c.69479G>A (TTN) | ENSP00000340554.6:p.Arg23160His | |
| ENST00000359218.10:c.69278G>A (TTN) | ENSP00000352154.5:p.Arg23093His | |
| ENST00000342175.10:c.69479G>A (TTN) | ENSP00000340554.6:p.Arg23160His | |
| ENST00000342992.10:c.88394G>A (TTN) | ENSP00000343764.6:p.Arg29465His | |
| ENST00000359218.9:c.69278G>A (TTN) | ENSP00000352154.5:p.Arg23093His | |
| ENST00000460472.6:c.68903G>A (TTN) | ENSP00000434586.1:p.Arg22968His | |
| ENST00000589042.5:c.96098G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32033His | |
| ENST00000591111.5:c.91175G>A (TTN) | ENSP00000465570.1:p.Arg30392His | |
| ENST00000615779.4:c.91175G>A (TTN) | ENSP00000483597.1:p.Arg30392His | |
| NM_001256850.1:c.91175G>A (TTN) | NP_001243779.1:p.Arg30392His | |
| NM_001267550.2:c.96098G>A (TTN) MANE Select | NP_001254479.2:p.Arg32033His | |
| NM_003319.4:c.68903G>A (TTN) | NP_003310.4:p.Arg22968His | |
| NM_133378.4:c.88394G>A (TTN) | NP_596869.4:p.Arg29465His | |
| NM_133432.3:c.69278G>A (TTN) | NP_597676.3:p.Arg23093His | |
| NM_133437.4:c.69479G>A (TTN) | NP_597681.4:p.Arg23160His | |
| NR_038271.1:n.446+20410C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1685C>T (TTN-AS1) | ||
| XM_011511729.1:c.95195G>A (TTN) | XP_011510031.1:p.Arg31732His | |
| XM_011511730.1:c.69089G>A (TTN) | XP_011510032.1:p.Arg23030His | |
| XM_011511731.1:c.68948G>A (TTN) | XP_011510033.1:p.Arg22983His | |
| XM_017004819.1:c.94991G>A (TTN) | XP_016860308.1:p.Arg31664His | |
| XM_017004820.1:c.90389G>A (TTN) | XP_016860309.1:p.Arg30130His | |
| XM_017004821.1:c.90386G>A (TTN) | XP_016860310.1:p.Arg30129His | |
| XM_017004822.1:c.87428G>A (TTN) | XP_016860311.1:p.Arg29143His | |
| XM_017004823.1:c.69044G>A (TTN) | XP_016860312.1:p.Arg23015His | |
| XM_024453094.1:c.90539G>A (TTN) | XP_024308862.1:p.Arg30180His | |
| XM_024453095.1:c.90536G>A (TTN) | XP_024308863.1:p.Arg30179His | |
| XM_024453096.1:c.89969G>A (TTN) | XP_024308864.1:p.Arg29990His | |
| XM_024453097.1:c.87311G>A (TTN) | XP_024308865.1:p.Arg29104His | |
| XM_024453098.1:c.87230G>A (TTN) | XP_024308866.1:p.Arg29077His | |
| XM_024453099.1:c.68993G>A (TTN) | XP_024308867.1:p.Arg22998His | |
| XM_024453100.1:c.58847G>A (TTN) | XP_024308868.1:p.Arg19616His |