Linked Data
ClinVar Variation Id:
130683
ClinVar RCV Id:
RCV000118788
RCV000154640
RCV000242302
RCV000852795
RCV001135497
RCV001135498
RCV004529989
RCV000769887
RCV001082906
RCV001135494
RCV001135495
RCV001135496
dbSNP Id:
rs114026724
ExAC:
2:179416989 A / G
gnomAD v2:
2-179416989-A-G
gnomAD v3:
2-178552262-A-G
gnomAD v4:
2-178552262-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552262A>G , CM000664.2:g.178552262A>G | GRCh38 |
| NC_000002.11:g.179416989A>G , CM000664.1:g.179416989A>G | GRCh37 |
| NC_000002.10:g.179125235A>G | NCBI36 |
| NG_011618.3:g.283541T>C , LRG_391:g.283541T>C | |
| NG_051363.1:g.34436A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82934T>C (TTN) | ENSP00000343764.6:p.Ile27645Thr | |
| ENST00000342175.11:c.64019T>C (TTN) | ENSP00000340554.6:p.Ile21340Thr | |
| ENST00000359218.10:c.63818T>C (TTN) | ENSP00000352154.5:p.Ile21273Thr | |
| ENST00000342175.10:c.64019T>C (TTN) | ENSP00000340554.6:p.Ile21340Thr | |
| ENST00000342992.10:c.82934T>C (TTN) | ENSP00000343764.6:p.Ile27645Thr | |
| ENST00000359218.9:c.63818T>C (TTN) | ENSP00000352154.5:p.Ile21273Thr | |
| ENST00000460472.6:c.63443T>C (TTN) | ENSP00000434586.1:p.Ile21148Thr | |
| ENST00000589042.5:c.90638T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile30213Thr | |
| ENST00000591111.5:c.85715T>C (TTN) | ENSP00000465570.1:p.Ile28572Thr | |
| ENST00000615779.4:c.85715T>C (TTN) | ENSP00000483597.1:p.Ile28572Thr | |
| NM_001256850.1:c.85715T>C (TTN) | NP_001243779.1:p.Ile28572Thr | |
| NM_001267550.2:c.90638T>C (TTN) MANE Select | NP_001254479.2:p.Ile30213Thr | |
| NM_003319.4:c.63443T>C (TTN) | NP_003310.4:p.Ile21148Thr | |
| NM_133378.4:c.82934T>C (TTN) | NP_596869.4:p.Ile27645Thr | |
| NM_133432.3:c.63818T>C (TTN) | NP_597676.3:p.Ile21273Thr | |
| NM_133437.4:c.64019T>C (TTN) | NP_597681.4:p.Ile21340Thr | |
| NR_038271.1:n.447-19038A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9901A>G (TTN-AS1) | ||
| XM_011511729.1:c.89735T>C (TTN) | XP_011510031.1:p.Ile29912Thr | |
| XM_011511730.1:c.63629T>C (TTN) | XP_011510032.1:p.Ile21210Thr | |
| XM_011511731.1:c.63488T>C (TTN) | XP_011510033.1:p.Ile21163Thr | |
| XM_017004819.1:c.89531T>C (TTN) | XP_016860308.1:p.Ile29844Thr | |
| XM_017004820.1:c.84929T>C (TTN) | XP_016860309.1:p.Ile28310Thr | |
| XM_017004821.1:c.84926T>C (TTN) | XP_016860310.1:p.Ile28309Thr | |
| XM_017004822.1:c.81968T>C (TTN) | XP_016860311.1:p.Ile27323Thr | |
| XM_017004823.1:c.63584T>C (TTN) | XP_016860312.1:p.Ile21195Thr | |
| XM_024453094.1:c.85079T>C (TTN) | XP_024308862.1:p.Ile28360Thr | |
| XM_024453095.1:c.85076T>C (TTN) | XP_024308863.1:p.Ile28359Thr | |
| XM_024453096.1:c.84509T>C (TTN) | XP_024308864.1:p.Ile28170Thr | |
| XM_024453097.1:c.81851T>C (TTN) | XP_024308865.1:p.Ile27284Thr | |
| XM_024453098.1:c.81770T>C (TTN) | XP_024308866.1:p.Ile27257Thr | |
| XM_024453099.1:c.63533T>C (TTN) | XP_024308867.1:p.Ile21178Thr | |
| XM_024453100.1:c.53387T>C (TTN) | XP_024308868.1:p.Ile17796Thr |