Linked Data
ClinVar Variation Id:
191854
ClinVar RCV Id:
RCV000172201
RCV000272895
RCV000326514
RCV000286593
RCV000378832
RCV000383680
RCV000610659
RCV000852790
RCV001086287
RCV001798611
RCV002354433
dbSNP Id:
rs369342933
ExAC:
2:179414440 A / G
gnomAD v2:
2-179414440-A-G
gnomAD v3:
2-178549713-A-G
gnomAD v4:
2-178549713-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549713A>G , CM000664.2:g.178549713A>G | GRCh38 |
| NC_000002.11:g.179414440A>G , CM000664.1:g.179414440A>G | GRCh37 |
| NC_000002.10:g.179122686A>G | NCBI36 |
| NG_011618.3:g.286090T>C , LRG_391:g.286090T>C | |
| NG_051363.1:g.31887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84305T>C (TTN) | ENSP00000343764.6:p.Ile28102Thr | |
| ENST00000342175.11:c.65390T>C (TTN) | ENSP00000340554.6:p.Ile21797Thr | |
| ENST00000359218.10:c.65189T>C (TTN) | ENSP00000352154.5:p.Ile21730Thr | |
| ENST00000342175.10:c.65390T>C (TTN) | ENSP00000340554.6:p.Ile21797Thr | |
| ENST00000342992.10:c.84305T>C (TTN) | ENSP00000343764.6:p.Ile28102Thr | |
| ENST00000359218.9:c.65189T>C (TTN) | ENSP00000352154.5:p.Ile21730Thr | |
| ENST00000460472.6:c.64814T>C (TTN) | ENSP00000434586.1:p.Ile21605Thr | |
| ENST00000589042.5:c.92009T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile30670Thr | |
| ENST00000591111.5:c.87086T>C (TTN) | ENSP00000465570.1:p.Ile29029Thr | |
| ENST00000615779.4:c.87086T>C (TTN) | ENSP00000483597.1:p.Ile29029Thr | |
| NM_001256850.1:c.87086T>C (TTN) | NP_001243779.1:p.Ile29029Thr | |
| NM_001267550.2:c.92009T>C (TTN) MANE Select | NP_001254479.2:p.Ile30670Thr | |
| NM_003319.4:c.64814T>C (TTN) | NP_003310.4:p.Ile21605Thr | |
| NM_133378.4:c.84305T>C (TTN) | NP_596869.4:p.Ile28102Thr | |
| NM_133432.3:c.65189T>C (TTN) | NP_597676.3:p.Ile21730Thr | |
| NM_133437.4:c.65390T>C (TTN) | NP_597681.4:p.Ile21797Thr | |
| NR_038271.1:n.447-21587A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+7352A>G (TTN-AS1) | ||
| XM_011511729.1:c.91106T>C (TTN) | XP_011510031.1:p.Ile30369Thr | |
| XM_011511730.1:c.65000T>C (TTN) | XP_011510032.1:p.Ile21667Thr | |
| XM_011511731.1:c.64859T>C (TTN) | XP_011510033.1:p.Ile21620Thr | |
| XM_017004819.1:c.90902T>C (TTN) | XP_016860308.1:p.Ile30301Thr | |
| XM_017004820.1:c.86300T>C (TTN) | XP_016860309.1:p.Ile28767Thr | |
| XM_017004821.1:c.86297T>C (TTN) | XP_016860310.1:p.Ile28766Thr | |
| XM_017004822.1:c.83339T>C (TTN) | XP_016860311.1:p.Ile27780Thr | |
| XM_017004823.1:c.64955T>C (TTN) | XP_016860312.1:p.Ile21652Thr | |
| XM_024453094.1:c.86450T>C (TTN) | XP_024308862.1:p.Ile28817Thr | |
| XM_024453095.1:c.86447T>C (TTN) | XP_024308863.1:p.Ile28816Thr | |
| XM_024453096.1:c.85880T>C (TTN) | XP_024308864.1:p.Ile28627Thr | |
| XM_024453097.1:c.83222T>C (TTN) | XP_024308865.1:p.Ile27741Thr | |
| XM_024453098.1:c.83141T>C (TTN) | XP_024308866.1:p.Ile27714Thr | |
| XM_024453099.1:c.64904T>C (TTN) | XP_024308867.1:p.Ile21635Thr | |
| XM_024453100.1:c.54758T>C (TTN) | XP_024308868.1:p.Ile18253Thr |