Linked Data
ClinVar Variation Id:
191829
ClinVar RCV Id:
RCV000172170
RCV000311753
RCV000315180
RCV000362844
RCV000270805
RCV000403284
RCV000517499
RCV001087486
RCV002381562
dbSNP Id:
rs201112096
ExAC:
2:179401248 C / T
gnomAD v2:
2-179401248-C-T
gnomAD v3:
2-178536521-C-T
gnomAD v4:
2-178536521-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536521C>T , CM000664.2:g.178536521C>T | GRCh38 |
| NC_000002.11:g.179401248C>T , CM000664.1:g.179401248C>T | GRCh37 |
| NC_000002.10:g.179109494C>T | NCBI36 |
| NG_011618.3:g.299282G>A , LRG_391:g.299282G>A | |
| NG_051363.1:g.18695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92522G>A (TTN) | ENSP00000343764.6:p.Cys30841Tyr | |
| ENST00000342175.11:c.73607G>A (TTN) | ENSP00000340554.6:p.Cys24536Tyr | |
| ENST00000359218.10:c.73406G>A (TTN) | ENSP00000352154.5:p.Cys24469Tyr | |
| ENST00000342175.10:c.73607G>A (TTN) | ENSP00000340554.6:p.Cys24536Tyr | |
| ENST00000342992.10:c.92522G>A (TTN) | ENSP00000343764.6:p.Cys30841Tyr | |
| ENST00000359218.9:c.73406G>A (TTN) | ENSP00000352154.5:p.Cys24469Tyr | |
| ENST00000460472.6:c.73031G>A (TTN) | ENSP00000434586.1:p.Cys24344Tyr | |
| ENST00000589042.5:c.100226G>A (TTN) MANE Select | ENSP00000467141.1:p.Cys33409Tyr | |
| ENST00000591111.5:c.95303G>A (TTN) | ENSP00000465570.1:p.Cys31768Tyr | |
| ENST00000615779.4:c.95303G>A (TTN) | ENSP00000483597.1:p.Cys31768Tyr | |
| NM_001256850.1:c.95303G>A (TTN) | NP_001243779.1:p.Cys31768Tyr | |
| NM_001267550.2:c.100226G>A (TTN) MANE Select | NP_001254479.2:p.Cys33409Tyr | |
| NM_003319.4:c.73031G>A (TTN) | NP_003310.4:p.Cys24344Tyr | |
| NM_133378.4:c.92522G>A (TTN) | NP_596869.4:p.Cys30841Tyr | |
| NM_133432.3:c.73406G>A (TTN) | NP_597676.3:p.Cys24469Tyr | |
| NM_133437.4:c.73607G>A (TTN) | NP_597681.4:p.Cys24536Tyr | |
| NR_038271.1:n.446+12885C>T (TTN-AS1) | ||
| NR_038272.1:n.316+693C>T (TTN-AS1) | ||
| XM_011511729.1:c.99323G>A (TTN) | XP_011510031.1:p.Cys33108Tyr | |
| XM_011511730.1:c.73217G>A (TTN) | XP_011510032.1:p.Cys24406Tyr | |
| XM_011511731.1:c.73076G>A (TTN) | XP_011510033.1:p.Cys24359Tyr | |
| XM_017004819.1:c.99119G>A (TTN) | XP_016860308.1:p.Cys33040Tyr | |
| XM_017004820.1:c.94517G>A (TTN) | XP_016860309.1:p.Cys31506Tyr | |
| XM_017004821.1:c.94514G>A (TTN) | XP_016860310.1:p.Cys31505Tyr | |
| XM_017004822.1:c.91556G>A (TTN) | XP_016860311.1:p.Cys30519Tyr | |
| XM_017004823.1:c.73172G>A (TTN) | XP_016860312.1:p.Cys24391Tyr | |
| XM_024453094.1:c.94667G>A (TTN) | XP_024308862.1:p.Cys31556Tyr | |
| XM_024453095.1:c.94664G>A (TTN) | XP_024308863.1:p.Cys31555Tyr | |
| XM_024453096.1:c.94097G>A (TTN) | XP_024308864.1:p.Cys31366Tyr | |
| XM_024453097.1:c.91439G>A (TTN) | XP_024308865.1:p.Cys30480Tyr | |
| XM_024453098.1:c.91358G>A (TTN) | XP_024308866.1:p.Cys30453Tyr | |
| XM_024453099.1:c.73121G>A (TTN) | XP_024308867.1:p.Cys24374Tyr | |
| XM_024453100.1:c.62975G>A (TTN) | XP_024308868.1:p.Cys20992Tyr |