Linked Data
ClinVar Variation Id:
165922
ClinVar RCV Id:
RCV000152267
RCV000535645
RCV000714063
RCV001128979
RCV001128975
RCV001128976
RCV001128977
RCV001128978
RCV002453496
RCV003486676
dbSNP Id:
rs527704660
ExAC:
2:179455163 C / T
gnomAD v2:
2-179455163-C-T
gnomAD v3:
2-178590436-C-T
gnomAD v4:
2-178590436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590436C>T , CM000664.2:g.178590436C>T | GRCh38 |
| NC_000002.11:g.179455163C>T , CM000664.1:g.179455163C>T | GRCh37 |
| NC_000002.10:g.179163409C>T | NCBI36 |
| NG_011618.3:g.245367G>A , LRG_391:g.245367G>A | |
| NG_051363.1:g.72610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53585G>A (TTN) | ENSP00000343764.6:p.Cys17862Tyr | |
| ENST00000342175.11:c.34670G>A (TTN) | ENSP00000340554.6:p.Cys11557Tyr | |
| ENST00000359218.10:c.34469G>A (TTN) | ENSP00000352154.5:p.Cys11490Tyr | |
| ENST00000342175.10:c.34670G>A (TTN) | ENSP00000340554.6:p.Cys11557Tyr | |
| ENST00000342992.10:c.53585G>A (TTN) | ENSP00000343764.6:p.Cys17862Tyr | |
| ENST00000359218.9:c.34469G>A (TTN) | ENSP00000352154.5:p.Cys11490Tyr | |
| ENST00000460472.6:c.34094G>A (TTN) | ENSP00000434586.1:p.Cys11365Tyr | |
| ENST00000589042.5:c.61289G>A (TTN) MANE Select | ENSP00000467141.1:p.Cys20430Tyr | |
| ENST00000591111.5:c.56366G>A (TTN) | ENSP00000465570.1:p.Cys18789Tyr | |
| ENST00000615779.4:c.56366G>A (TTN) | ENSP00000483597.1:p.Cys18789Tyr | |
| NM_001256850.1:c.56366G>A (TTN) | NP_001243779.1:p.Cys18789Tyr | |
| NM_001267550.2:c.61289G>A (TTN) MANE Select | NP_001254479.2:p.Cys20430Tyr | |
| NM_003319.4:c.34094G>A (TTN) | NP_003310.4:p.Cys11365Tyr | |
| NM_133378.4:c.53585G>A (TTN) | NP_596869.4:p.Cys17862Tyr | |
| NM_133432.3:c.34469G>A (TTN) | NP_597676.3:p.Cys11490Tyr | |
| NM_133437.4:c.34670G>A (TTN) | NP_597681.4:p.Cys11557Tyr | |
| NR_038271.1:n.597-7160C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-703C>T (TTN-AS1) | ||
| XM_011511729.1:c.60386G>A (TTN) | XP_011510031.1:p.Cys20129Tyr | |
| XM_011511730.1:c.34280G>A (TTN) | XP_011510032.1:p.Cys11427Tyr | |
| XM_011511731.1:c.34139G>A (TTN) | XP_011510033.1:p.Cys11380Tyr | |
| XM_017004819.1:c.60182G>A (TTN) | XP_016860308.1:p.Cys20061Tyr | |
| XM_017004820.1:c.55580G>A (TTN) | XP_016860309.1:p.Cys18527Tyr | |
| XM_017004821.1:c.55577G>A (TTN) | XP_016860310.1:p.Cys18526Tyr | |
| XM_017004822.1:c.52619G>A (TTN) | XP_016860311.1:p.Cys17540Tyr | |
| XM_017004823.1:c.34235G>A (TTN) | XP_016860312.1:p.Cys11412Tyr | |
| XM_024453094.1:c.55730G>A (TTN) | XP_024308862.1:p.Cys18577Tyr | |
| XM_024453095.1:c.55727G>A (TTN) | XP_024308863.1:p.Cys18576Tyr | |
| XM_024453096.1:c.55160G>A (TTN) | XP_024308864.1:p.Cys18387Tyr | |
| XM_024453097.1:c.52502G>A (TTN) | XP_024308865.1:p.Cys17501Tyr | |
| XM_024453098.1:c.52421G>A (TTN) | XP_024308866.1:p.Cys17474Tyr | |
| XM_024453099.1:c.34184G>A (TTN) | XP_024308867.1:p.Cys11395Tyr | |
| XM_024453100.1:c.24038G>A (TTN) | XP_024308868.1:p.Cys8013Tyr |