Linked Data
ClinVar Variation Id:
191899
ClinVar RCV Id:
RCV000172260
RCV001083382
RCV001132951
RCV001132000
RCV001132001
RCV001132002
RCV001132003
RCV002281995
RCV002336413
dbSNP Id:
rs140018785
ExAC:
2:179438056 C / T
gnomAD v2:
2-179438056-C-T
gnomAD v3:
2-178573329-C-T
gnomAD v4:
2-178573329-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573329C>T , CM000664.2:g.178573329C>T | GRCh38 |
| NC_000002.11:g.179438056C>T , CM000664.1:g.179438056C>T | GRCh37 |
| NC_000002.10:g.179146302C>T | NCBI36 |
| NG_011618.3:g.262474G>A , LRG_391:g.262474G>A | |
| NG_051363.1:g.55503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65099G>A (TTN) | ENSP00000343764.6:p.Arg21700His | |
| ENST00000342175.11:c.46184G>A (TTN) | ENSP00000340554.6:p.Arg15395His | |
| ENST00000359218.10:c.45983G>A (TTN) | ENSP00000352154.5:p.Arg15328His | |
| ENST00000342175.10:c.46184G>A (TTN) | ENSP00000340554.6:p.Arg15395His | |
| ENST00000342992.10:c.65099G>A (TTN) | ENSP00000343764.6:p.Arg21700His | |
| ENST00000359218.9:c.45983G>A (TTN) | ENSP00000352154.5:p.Arg15328His | |
| ENST00000460472.6:c.45608G>A (TTN) | ENSP00000434586.1:p.Arg15203His | |
| ENST00000589042.5:c.72803G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24268His | |
| ENST00000591111.5:c.67880G>A (TTN) | ENSP00000465570.1:p.Arg22627His | |
| ENST00000615779.4:c.67880G>A (TTN) | ENSP00000483597.1:p.Arg22627His | |
| NM_001256850.1:c.67880G>A (TTN) | NP_001243779.1:p.Arg22627His | |
| NM_001267550.2:c.72803G>A (TTN) MANE Select | NP_001254479.2:p.Arg24268His | |
| NM_003319.4:c.45608G>A (TTN) | NP_003310.4:p.Arg15203His | |
| NM_133378.4:c.65099G>A (TTN) | NP_596869.4:p.Arg21700His | |
| NM_133432.3:c.45983G>A (TTN) | NP_597676.3:p.Arg15328His | |
| NM_133437.4:c.46184G>A (TTN) | NP_597681.4:p.Arg15395His | |
| NR_038271.1:n.596+1880C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9243C>T (TTN-AS1) | ||
| XM_011511729.1:c.71900G>A (TTN) | XP_011510031.1:p.Arg23967His | |
| XM_011511730.1:c.45794G>A (TTN) | XP_011510032.1:p.Arg15265His | |
| XM_011511731.1:c.45653G>A (TTN) | XP_011510033.1:p.Arg15218His | |
| XM_017004819.1:c.71696G>A (TTN) | XP_016860308.1:p.Arg23899His | |
| XM_017004820.1:c.67094G>A (TTN) | XP_016860309.1:p.Arg22365His | |
| XM_017004821.1:c.67091G>A (TTN) | XP_016860310.1:p.Arg22364His | |
| XM_017004822.1:c.64133G>A (TTN) | XP_016860311.1:p.Arg21378His | |
| XM_017004823.1:c.45749G>A (TTN) | XP_016860312.1:p.Arg15250His | |
| XM_024453094.1:c.67244G>A (TTN) | XP_024308862.1:p.Arg22415His | |
| XM_024453095.1:c.67241G>A (TTN) | XP_024308863.1:p.Arg22414His | |
| XM_024453096.1:c.66674G>A (TTN) | XP_024308864.1:p.Arg22225His | |
| XM_024453097.1:c.64016G>A (TTN) | XP_024308865.1:p.Arg21339His | |
| XM_024453098.1:c.63935G>A (TTN) | XP_024308866.1:p.Arg21312His | |
| XM_024453099.1:c.45698G>A (TTN) | XP_024308867.1:p.Arg15233His | |
| XM_024453100.1:c.35552G>A (TTN) | XP_024308868.1:p.Arg11851His |