Linked Data
ClinVar Variation Id:
47317
ClinVar RCV Id:
RCV000040587
RCV000172641
RCV000288602
RCV000343679
RCV000349884
RCV000388861
RCV000397203
RCV001080138
RCV002336145
RCV003149657
dbSNP Id:
rs142874389
ExAC:
2:179438077 C / T
gnomAD v2:
2-179438077-C-T
gnomAD v3:
2-178573350-C-T
gnomAD v4:
2-178573350-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573350C>T , CM000664.2:g.178573350C>T | GRCh38 |
| NC_000002.11:g.179438077C>T , CM000664.1:g.179438077C>T | GRCh37 |
| NC_000002.10:g.179146323C>T | NCBI36 |
| NG_011618.3:g.262453G>A , LRG_391:g.262453G>A | |
| NG_051363.1:g.55524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65078G>A (TTN) | ENSP00000343764.6:p.Arg21693Gln | |
| ENST00000342175.11:c.46163G>A (TTN) | ENSP00000340554.6:p.Arg15388Gln | |
| ENST00000359218.10:c.45962G>A (TTN) | ENSP00000352154.5:p.Arg15321Gln | |
| ENST00000342175.10:c.46163G>A (TTN) | ENSP00000340554.6:p.Arg15388Gln | |
| ENST00000342992.10:c.65078G>A (TTN) | ENSP00000343764.6:p.Arg21693Gln | |
| ENST00000359218.9:c.45962G>A (TTN) | ENSP00000352154.5:p.Arg15321Gln | |
| ENST00000460472.6:c.45587G>A (TTN) | ENSP00000434586.1:p.Arg15196Gln | |
| ENST00000589042.5:c.72782G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24261Gln | |
| ENST00000591111.5:c.67859G>A (TTN) | ENSP00000465570.1:p.Arg22620Gln | |
| ENST00000615779.4:c.67859G>A (TTN) | ENSP00000483597.1:p.Arg22620Gln | |
| NM_001256850.1:c.67859G>A (TTN) | NP_001243779.1:p.Arg22620Gln | |
| NM_001267550.2:c.72782G>A (TTN) MANE Select | NP_001254479.2:p.Arg24261Gln | |
| NM_003319.4:c.45587G>A (TTN) | NP_003310.4:p.Arg15196Gln | |
| NM_133378.4:c.65078G>A (TTN) | NP_596869.4:p.Arg21693Gln | |
| NM_133432.3:c.45962G>A (TTN) | NP_597676.3:p.Arg15321Gln | |
| NM_133437.4:c.46163G>A (TTN) | NP_597681.4:p.Arg15388Gln | |
| NR_038271.1:n.596+1901C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9222C>T (TTN-AS1) | ||
| XM_011511729.1:c.71879G>A (TTN) | XP_011510031.1:p.Arg23960Gln | |
| XM_011511730.1:c.45773G>A (TTN) | XP_011510032.1:p.Arg15258Gln | |
| XM_011511731.1:c.45632G>A (TTN) | XP_011510033.1:p.Arg15211Gln | |
| XM_017004819.1:c.71675G>A (TTN) | XP_016860308.1:p.Arg23892Gln | |
| XM_017004820.1:c.67073G>A (TTN) | XP_016860309.1:p.Arg22358Gln | |
| XM_017004821.1:c.67070G>A (TTN) | XP_016860310.1:p.Arg22357Gln | |
| XM_017004822.1:c.64112G>A (TTN) | XP_016860311.1:p.Arg21371Gln | |
| XM_017004823.1:c.45728G>A (TTN) | XP_016860312.1:p.Arg15243Gln | |
| XM_024453094.1:c.67223G>A (TTN) | XP_024308862.1:p.Arg22408Gln | |
| XM_024453095.1:c.67220G>A (TTN) | XP_024308863.1:p.Arg22407Gln | |
| XM_024453096.1:c.66653G>A (TTN) | XP_024308864.1:p.Arg22218Gln | |
| XM_024453097.1:c.63995G>A (TTN) | XP_024308865.1:p.Arg21332Gln | |
| XM_024453098.1:c.63914G>A (TTN) | XP_024308866.1:p.Arg21305Gln | |
| XM_024453099.1:c.45677G>A (TTN) | XP_024308867.1:p.Arg15226Gln | |
| XM_024453100.1:c.35531G>A (TTN) | XP_024308868.1:p.Arg11844Gln |