Linked Data
ClinVar Variation Id:
47658
ClinVar RCV Id:
RCV000040927
RCV000619030
RCV000725429
RCV001082764
RCV001135488
RCV001135484
RCV001135485
RCV001135486
RCV001135487
RCV001170292
dbSNP Id:
rs192001910
ExAC:
2:179398050 G / A
gnomAD v2:
2-179398050-G-A
gnomAD v3:
2-178533323-G-A
gnomAD v4:
2-178533323-G-A
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533323G>A , CM000664.2:g.178533323G>A | GRCh38 |
| NC_000002.11:g.179398050G>A , CM000664.1:g.179398050G>A | GRCh37 |
| NC_000002.10:g.179106296G>A | NCBI36 |
| NG_011618.3:g.302480C>T , LRG_391:g.302480C>T | |
| NG_051363.1:g.15497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95588C>T (TTN) | ENSP00000343764.6:p.Thr31863Met | |
| ENST00000342175.11:c.76673C>T (TTN) | ENSP00000340554.6:p.Thr25558Met | |
| ENST00000359218.10:c.76472C>T (TTN) | ENSP00000352154.5:p.Thr25491Met | |
| ENST00000342175.10:c.76673C>T (TTN) | ENSP00000340554.6:p.Thr25558Met | |
| ENST00000342992.10:c.95588C>T (TTN) | ENSP00000343764.6:p.Thr31863Met | |
| ENST00000359218.9:c.76472C>T (TTN) | ENSP00000352154.5:p.Thr25491Met | |
| ENST00000460472.6:c.76097C>T (TTN) | ENSP00000434586.1:p.Thr25366Met | |
| ENST00000589042.5:c.103292C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr34431Met | |
| ENST00000591111.5:c.98369C>T (TTN) | ENSP00000465570.1:p.Thr32790Met | |
| ENST00000615779.4:c.98369C>T (TTN) | ENSP00000483597.1:p.Thr32790Met | |
| NM_001256850.1:c.98369C>T (TTN) | NP_001243779.1:p.Thr32790Met | |
| NM_001267550.2:c.103292C>T (TTN) MANE Select | NP_001254479.2:p.Thr34431Met | |
| NM_003319.4:c.76097C>T (TTN) | NP_003310.4:p.Thr25366Met | |
| NM_133378.4:c.95588C>T (TTN) | NP_596869.4:p.Thr31863Met | |
| NM_133432.3:c.76472C>T (TTN) | NP_597676.3:p.Thr25491Met | |
| NM_133437.4:c.76673C>T (TTN) | NP_597681.4:p.Thr25558Met | |
| NR_038271.1:n.446+9687G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2409G>A (TTN-AS1) | ||
| XM_011511729.1:c.102389C>T (TTN) | XP_011510031.1:p.Thr34130Met | |
| XM_011511730.1:c.76283C>T (TTN) | XP_011510032.1:p.Thr25428Met | |
| XM_011511731.1:c.76142C>T (TTN) | XP_011510033.1:p.Thr25381Met | |
| XM_017004819.1:c.102185C>T (TTN) | XP_016860308.1:p.Thr34062Met | |
| XM_017004820.1:c.97583C>T (TTN) | XP_016860309.1:p.Thr32528Met | |
| XM_017004821.1:c.97580C>T (TTN) | XP_016860310.1:p.Thr32527Met | |
| XM_017004822.1:c.94622C>T (TTN) | XP_016860311.1:p.Thr31541Met | |
| XM_017004823.1:c.76238C>T (TTN) | XP_016860312.1:p.Thr25413Met | |
| XM_024453094.1:c.97733C>T (TTN) | XP_024308862.1:p.Thr32578Met | |
| XM_024453095.1:c.97730C>T (TTN) | XP_024308863.1:p.Thr32577Met | |
| XM_024453096.1:c.97163C>T (TTN) | XP_024308864.1:p.Thr32388Met | |
| XM_024453097.1:c.94505C>T (TTN) | XP_024308865.1:p.Thr31502Met | |
| XM_024453098.1:c.94424C>T (TTN) | XP_024308866.1:p.Thr31475Met | |
| XM_024453099.1:c.76187C>T (TTN) | XP_024308867.1:p.Thr25396Met | |
| XM_024453100.1:c.66041C>T (TTN) | XP_024308868.1:p.Thr22014Met |