Linked Data
ClinVar Variation Id:
47585
dbSNP Id:
rs397517770
ExAC:
2:179407065 C / T
gnomAD v2:
2-179407065-C-T
gnomAD v3:
2-178542338-C-T
gnomAD v4:
2-178542338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542338C>T , CM000664.2:g.178542338C>T | GRCh38 |
| NC_000002.11:g.179407065C>T , CM000664.1:g.179407065C>T | GRCh37 |
| NC_000002.10:g.179115311C>T | NCBI36 |
| NG_011618.3:g.293465G>A , LRG_391:g.293465G>A | |
| NG_051363.1:g.24512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89714G>A (TTN) | ENSP00000343764.6:p.Arg29905His | |
| ENST00000342175.11:c.70799G>A (TTN) | ENSP00000340554.6:p.Arg23600His | |
| ENST00000359218.10:c.70598G>A (TTN) | ENSP00000352154.5:p.Arg23533His | |
| ENST00000342175.10:c.70799G>A (TTN) | ENSP00000340554.6:p.Arg23600His | |
| ENST00000342992.10:c.89714G>A (TTN) | ENSP00000343764.6:p.Arg29905His | |
| ENST00000359218.9:c.70598G>A (TTN) | ENSP00000352154.5:p.Arg23533His | |
| ENST00000460472.6:c.70223G>A (TTN) | ENSP00000434586.1:p.Arg23408His | |
| ENST00000589042.5:c.97418G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32473His | |
| ENST00000591111.5:c.92495G>A (TTN) | ENSP00000465570.1:p.Arg30832His | |
| ENST00000615779.4:c.92495G>A (TTN) | ENSP00000483597.1:p.Arg30832His | |
| NM_001256850.1:c.92495G>A (TTN) | NP_001243779.1:p.Arg30832His | |
| NM_001267550.2:c.97418G>A (TTN) MANE Select | NP_001254479.2:p.Arg32473His | |
| NM_003319.4:c.70223G>A (TTN) | NP_003310.4:p.Arg23408His | |
| NM_133378.4:c.89714G>A (TTN) | NP_596869.4:p.Arg29905His | |
| NM_133432.3:c.70598G>A (TTN) | NP_597676.3:p.Arg23533His | |
| NM_133437.4:c.70799G>A (TTN) | NP_597681.4:p.Arg23600His | |
| NR_038271.1:n.446+18702C>T (TTN-AS1) | ||
| NR_038272.1:n.2020C>T (TTN-AS1) | ||
| XM_011511729.1:c.96515G>A (TTN) | XP_011510031.1:p.Arg32172His | |
| XM_011511730.1:c.70409G>A (TTN) | XP_011510032.1:p.Arg23470His | |
| XM_011511731.1:c.70268G>A (TTN) | XP_011510033.1:p.Arg23423His | |
| XM_017004819.1:c.96311G>A (TTN) | XP_016860308.1:p.Arg32104His | |
| XM_017004820.1:c.91709G>A (TTN) | XP_016860309.1:p.Arg30570His | |
| XM_017004821.1:c.91706G>A (TTN) | XP_016860310.1:p.Arg30569His | |
| XM_017004822.1:c.88748G>A (TTN) | XP_016860311.1:p.Arg29583His | |
| XM_017004823.1:c.70364G>A (TTN) | XP_016860312.1:p.Arg23455His | |
| XM_024453094.1:c.91859G>A (TTN) | XP_024308862.1:p.Arg30620His | |
| XM_024453095.1:c.91856G>A (TTN) | XP_024308863.1:p.Arg30619His | |
| XM_024453096.1:c.91289G>A (TTN) | XP_024308864.1:p.Arg30430His | |
| XM_024453097.1:c.88631G>A (TTN) | XP_024308865.1:p.Arg29544His | |
| XM_024453098.1:c.88550G>A (TTN) | XP_024308866.1:p.Arg29517His | |
| XM_024453099.1:c.70313G>A (TTN) | XP_024308867.1:p.Arg23438His | |
| XM_024453100.1:c.60167G>A (TTN) | XP_024308868.1:p.Arg20056His |