Linked Data
ClinVar Variation Id:
47513
ClinVar RCV Id:
RCV000040782
RCV000172620
RCV000282263
RCV000295443
RCV000316301
RCV000352604
RCV000373589
RCV000457779
RCV002362644
dbSNP Id:
rs200854704
ExAC:
2:179414944 C / T
gnomAD v2:
2-179414944-C-T
gnomAD v3:
2-178550217-C-T
gnomAD v4:
2-178550217-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550217C>T , CM000664.2:g.178550217C>T | GRCh38 |
| NC_000002.11:g.179414944C>T , CM000664.1:g.179414944C>T | GRCh37 |
| NC_000002.10:g.179123190C>T | NCBI36 |
| NG_011618.3:g.285586G>A , LRG_391:g.285586G>A | |
| NG_051363.1:g.32391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83917G>A (TTN) | ENSP00000343764.6:p.Gly27973Arg | |
| ENST00000342175.11:c.65002G>A (TTN) | ENSP00000340554.6:p.Gly21668Arg | |
| ENST00000359218.10:c.64801G>A (TTN) | ENSP00000352154.5:p.Gly21601Arg | |
| ENST00000342175.10:c.65002G>A (TTN) | ENSP00000340554.6:p.Gly21668Arg | |
| ENST00000342992.10:c.83917G>A (TTN) | ENSP00000343764.6:p.Gly27973Arg | |
| ENST00000359218.9:c.64801G>A (TTN) | ENSP00000352154.5:p.Gly21601Arg | |
| ENST00000460472.6:c.64426G>A (TTN) | ENSP00000434586.1:p.Gly21476Arg | |
| ENST00000589042.5:c.91621G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly30541Arg | |
| ENST00000591111.5:c.86698G>A (TTN) | ENSP00000465570.1:p.Gly28900Arg | |
| ENST00000615779.4:c.86698G>A (TTN) | ENSP00000483597.1:p.Gly28900Arg | |
| NM_001256850.1:c.86698G>A (TTN) | NP_001243779.1:p.Gly28900Arg | |
| NM_001267550.2:c.91621G>A (TTN) MANE Select | NP_001254479.2:p.Gly30541Arg | |
| NM_003319.4:c.64426G>A (TTN) | NP_003310.4:p.Gly21476Arg | |
| NM_133378.4:c.83917G>A (TTN) | NP_596869.4:p.Gly27973Arg | |
| NM_133432.3:c.64801G>A (TTN) | NP_597676.3:p.Gly21601Arg | |
| NM_133437.4:c.65002G>A (TTN) | NP_597681.4:p.Gly21668Arg | |
| NR_038271.1:n.447-21083C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7856C>T (TTN-AS1) | ||
| XM_011511729.1:c.90718G>A (TTN) | XP_011510031.1:p.Gly30240Arg | |
| XM_011511730.1:c.64612G>A (TTN) | XP_011510032.1:p.Gly21538Arg | |
| XM_011511731.1:c.64471G>A (TTN) | XP_011510033.1:p.Gly21491Arg | |
| XM_017004819.1:c.90514G>A (TTN) | XP_016860308.1:p.Gly30172Arg | |
| XM_017004820.1:c.85912G>A (TTN) | XP_016860309.1:p.Gly28638Arg | |
| XM_017004821.1:c.85909G>A (TTN) | XP_016860310.1:p.Gly28637Arg | |
| XM_017004822.1:c.82951G>A (TTN) | XP_016860311.1:p.Gly27651Arg | |
| XM_017004823.1:c.64567G>A (TTN) | XP_016860312.1:p.Gly21523Arg | |
| XM_024453094.1:c.86062G>A (TTN) | XP_024308862.1:p.Gly28688Arg | |
| XM_024453095.1:c.86059G>A (TTN) | XP_024308863.1:p.Gly28687Arg | |
| XM_024453096.1:c.85492G>A (TTN) | XP_024308864.1:p.Gly28498Arg | |
| XM_024453097.1:c.82834G>A (TTN) | XP_024308865.1:p.Gly27612Arg | |
| XM_024453098.1:c.82753G>A (TTN) | XP_024308866.1:p.Gly27585Arg | |
| XM_024453099.1:c.64516G>A (TTN) | XP_024308867.1:p.Gly21506Arg | |
| XM_024453100.1:c.54370G>A (TTN) | XP_024308868.1:p.Gly18124Arg |