Linked Data
ClinVar Variation Id:
47708
ClinVar RCV Id:
RCV000040977
RCV000275025
RCV000317386
RCV000295013
RCV000364730
RCV000330150
RCV000462969
RCV000621207
RCV001091785
RCV004537122
dbSNP Id:
rs55838839
ExAC:
2:179393900 A / T
gnomAD v2:
2-179393900-A-T
gnomAD v3:
2-178529173-A-T
gnomAD v4:
2-178529173-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178529173A>T , CM000664.2:g.178529173A>T | GRCh38 |
| NC_000002.11:g.179393900A>T , CM000664.1:g.179393900A>T | GRCh37 |
| NC_000002.10:g.179102146A>T | NCBI36 |
| NG_011618.3:g.306630T>A , LRG_391:g.306630T>A | |
| NG_051363.1:g.11347A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98874T>A (TTN) | ENSP00000343764.6:p.Ser32958= | |
| ENST00000342175.11:c.79959T>A (TTN) | ENSP00000340554.6:p.Ser26653= | |
| ENST00000359218.10:c.79758T>A (TTN) | ENSP00000352154.5:p.Ser26586= | |
| ENST00000342175.10:c.79959T>A (TTN) | ENSP00000340554.6:p.Ser26653= | |
| ENST00000342992.10:c.98874T>A (TTN) | ENSP00000343764.6:p.Ser32958= | |
| ENST00000359218.9:c.79758T>A (TTN) | ENSP00000352154.5:p.Ser26586= | |
| ENST00000460472.6:c.79383T>A (TTN) | ENSP00000434586.1:p.Ser26461= | |
| ENST00000589042.5:c.106578T>A (TTN) MANE Select | ENSP00000467141.1:p.Ser35526= | |
| ENST00000591111.5:c.101655T>A (TTN) | ENSP00000465570.1:p.Ser33885= | |
| ENST00000615779.4:c.101655T>A (TTN) | ENSP00000483597.1:p.Ser33885= | |
| NM_001256850.1:c.101655T>A (TTN) | NP_001243779.1:p.Ser33885= | |
| NM_001267550.2:c.106578T>A (TTN) MANE Select | NP_001254479.2:p.Ser35526= | |
| NM_003319.4:c.79383T>A (TTN) | NP_003310.4:p.Ser26461= | |
| NM_133378.4:c.98874T>A (TTN) | NP_596869.4:p.Ser32958= | |
| NM_133432.3:c.79758T>A (TTN) | NP_597676.3:p.Ser26586= | |
| NM_133437.4:c.79959T>A (TTN) | NP_597681.4:p.Ser26653= | |
| NR_038271.1:n.446+5537A>T (TTN-AS1) | ||
| NR_038272.1:n.219+5537A>T (TTN-AS1) | ||
| XM_011511729.1:c.105675T>A (TTN) | XP_011510031.1:p.Ser35225= | |
| XM_011511730.1:c.79569T>A (TTN) | XP_011510032.1:p.Ser26523= | |
| XM_011511731.1:c.79428T>A (TTN) | XP_011510033.1:p.Ser26476= | |
| XM_017004819.1:c.105471T>A (TTN) | XP_016860308.1:p.Ser35157= | |
| XM_017004820.1:c.100869T>A (TTN) | XP_016860309.1:p.Ser33623= | |
| XM_017004821.1:c.100866T>A (TTN) | XP_016860310.1:p.Ser33622= | |
| XM_017004822.1:c.97908T>A (TTN) | XP_016860311.1:p.Ser32636= | |
| XM_017004823.1:c.79524T>A (TTN) | XP_016860312.1:p.Ser26508= | |
| XM_024453094.1:c.101019T>A (TTN) | XP_024308862.1:p.Ser33673= | |
| XM_024453095.1:c.101016T>A (TTN) | XP_024308863.1:p.Ser33672= | |
| XM_024453096.1:c.100449T>A (TTN) | XP_024308864.1:p.Ser33483= | |
| XM_024453097.1:c.97791T>A (TTN) | XP_024308865.1:p.Ser32597= | |
| XM_024453098.1:c.97710T>A (TTN) | XP_024308866.1:p.Ser32570= | |
| XM_024453099.1:c.79473T>A (TTN) | XP_024308867.1:p.Ser26491= | |
| XM_024453100.1:c.69327T>A (TTN) | XP_024308868.1:p.Ser23109= |