Linked Data
ClinVar Variation Id:
130675
ClinVar RCV Id:
RCV000118771
RCV000556436
RCV001132252
RCV001132253
RCV001132254
RCV001133162
RCV001133163
RCV002321598
dbSNP Id:
rs200732032
ExAC:
2:179457598 C / T
gnomAD v2:
2-179457598-C-T
gnomAD v3:
2-178592871-C-T
gnomAD v4:
2-178592871-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592871C>T , CM000664.2:g.178592871C>T | GRCh38 |
| NC_000002.11:g.179457598C>T , CM000664.1:g.179457598C>T | GRCh37 |
| NC_000002.10:g.179165844C>T | NCBI36 |
| NG_011618.3:g.242932G>A , LRG_391:g.242932G>A | |
| NG_051363.1:g.75045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51544G>A (TTN) | ENSP00000343764.6:p.Gly17182Ser | |
| ENST00000342175.11:c.32629G>A (TTN) | ENSP00000340554.6:p.Gly10877Ser | |
| ENST00000359218.10:c.32428G>A (TTN) | ENSP00000352154.5:p.Gly10810Ser | |
| ENST00000342175.10:c.32629G>A (TTN) | ENSP00000340554.6:p.Gly10877Ser | |
| ENST00000342992.10:c.51544G>A (TTN) | ENSP00000343764.6:p.Gly17182Ser | |
| ENST00000359218.9:c.32428G>A (TTN) | ENSP00000352154.5:p.Gly10810Ser | |
| ENST00000460472.6:c.32053G>A (TTN) | ENSP00000434586.1:p.Gly10685Ser | |
| ENST00000589042.5:c.59248G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly19750Ser | |
| ENST00000591111.5:c.54325G>A (TTN) | ENSP00000465570.1:p.Gly18109Ser | |
| ENST00000615779.4:c.54325G>A (TTN) | ENSP00000483597.1:p.Gly18109Ser | |
| NM_001256850.1:c.54325G>A (TTN) | NP_001243779.1:p.Gly18109Ser | |
| NM_001267550.2:c.59248G>A (TTN) MANE Select | NP_001254479.2:p.Gly19750Ser | |
| NM_003319.4:c.32053G>A (TTN) | NP_003310.4:p.Gly10685Ser | |
| NM_133378.4:c.51544G>A (TTN) | NP_596869.4:p.Gly17182Ser | |
| NM_133432.3:c.32428G>A (TTN) | NP_597676.3:p.Gly10810Ser | |
| NM_133437.4:c.32629G>A (TTN) | NP_597681.4:p.Gly10877Ser | |
| NR_038271.1:n.597-4725C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1557C>T (TTN-AS1) | ||
| XM_011511729.1:c.58345G>A (TTN) | XP_011510031.1:p.Gly19449Ser | |
| XM_011511730.1:c.32239G>A (TTN) | XP_011510032.1:p.Gly10747Ser | |
| XM_011511731.1:c.32098G>A (TTN) | XP_011510033.1:p.Gly10700Ser | |
| XM_017004819.1:c.58141G>A (TTN) | XP_016860308.1:p.Gly19381Ser | |
| XM_017004820.1:c.53539G>A (TTN) | XP_016860309.1:p.Gly17847Ser | |
| XM_017004821.1:c.53536G>A (TTN) | XP_016860310.1:p.Gly17846Ser | |
| XM_017004822.1:c.50578G>A (TTN) | XP_016860311.1:p.Gly16860Ser | |
| XM_017004823.1:c.32194G>A (TTN) | XP_016860312.1:p.Gly10732Ser | |
| XM_024453094.1:c.53689G>A (TTN) | XP_024308862.1:p.Gly17897Ser | |
| XM_024453095.1:c.53686G>A (TTN) | XP_024308863.1:p.Gly17896Ser | |
| XM_024453096.1:c.53119G>A (TTN) | XP_024308864.1:p.Gly17707Ser | |
| XM_024453097.1:c.50461G>A (TTN) | XP_024308865.1:p.Gly16821Ser | |
| XM_024453098.1:c.50380G>A (TTN) | XP_024308866.1:p.Gly16794Ser | |
| XM_024453099.1:c.32143G>A (TTN) | XP_024308867.1:p.Gly10715Ser | |
| XM_024453100.1:c.21997G>A (TTN) | XP_024308868.1:p.Gly7333Ser |