Linked Data
ClinVar Variation Id:
202318
ClinVar RCV Id:
RCV000243001
RCV000714067
RCV001130197
RCV001130198
RCV001130200
RCV001130199
RCV001130201
RCV001328447
dbSNP Id:
rs148684589
ExAC:
2:179452410 C / T
gnomAD v2:
2-179452410-C-T
gnomAD v3:
2-178587683-C-T
gnomAD v4:
2-178587683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587683C>T , CM000664.2:g.178587683C>T | GRCh38 |
| NC_000002.11:g.179452410C>T , CM000664.1:g.179452410C>T | GRCh37 |
| NC_000002.10:g.179160656C>T | NCBI36 |
| NG_011618.3:g.248120G>A , LRG_391:g.248120G>A | |
| NG_051363.1:g.69857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55922G>A (TTN) | ENSP00000343764.6:p.Arg18641Gln | |
| ENST00000342175.11:c.37007G>A (TTN) | ENSP00000340554.6:p.Arg12336Gln | |
| ENST00000359218.10:c.36806G>A (TTN) | ENSP00000352154.5:p.Arg12269Gln | |
| ENST00000342175.10:c.37007G>A (TTN) | ENSP00000340554.6:p.Arg12336Gln | |
| ENST00000342992.10:c.55922G>A (TTN) | ENSP00000343764.6:p.Arg18641Gln | |
| ENST00000359218.9:c.36806G>A (TTN) | ENSP00000352154.5:p.Arg12269Gln | |
| ENST00000460472.6:c.36431G>A (TTN) | ENSP00000434586.1:p.Arg12144Gln | |
| ENST00000589042.5:c.63626G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21209Gln | |
| ENST00000591111.5:c.58703G>A (TTN) | ENSP00000465570.1:p.Arg19568Gln | |
| ENST00000615779.4:c.58703G>A (TTN) | ENSP00000483597.1:p.Arg19568Gln | |
| NM_001256850.1:c.58703G>A (TTN) | NP_001243779.1:p.Arg19568Gln | |
| NM_001267550.2:c.63626G>A (TTN) MANE Select | NP_001254479.2:p.Arg21209Gln | |
| NM_003319.4:c.36431G>A (TTN) | NP_003310.4:p.Arg12144Gln | |
| NM_133378.4:c.55922G>A (TTN) | NP_596869.4:p.Arg18641Gln | |
| NM_133432.3:c.36806G>A (TTN) | NP_597676.3:p.Arg12269Gln | |
| NM_133437.4:c.37007G>A (TTN) | NP_597681.4:p.Arg12336Gln | |
| NR_038271.1:n.597-9913C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2690C>T (TTN-AS1) | ||
| XM_011511729.1:c.62723G>A (TTN) | XP_011510031.1:p.Arg20908Gln | |
| XM_011511730.1:c.36617G>A (TTN) | XP_011510032.1:p.Arg12206Gln | |
| XM_011511731.1:c.36476G>A (TTN) | XP_011510033.1:p.Arg12159Gln | |
| XM_017004819.1:c.62519G>A (TTN) | XP_016860308.1:p.Arg20840Gln | |
| XM_017004820.1:c.57917G>A (TTN) | XP_016860309.1:p.Arg19306Gln | |
| XM_017004821.1:c.57914G>A (TTN) | XP_016860310.1:p.Arg19305Gln | |
| XM_017004822.1:c.54956G>A (TTN) | XP_016860311.1:p.Arg18319Gln | |
| XM_017004823.1:c.36572G>A (TTN) | XP_016860312.1:p.Arg12191Gln | |
| XM_024453094.1:c.58067G>A (TTN) | XP_024308862.1:p.Arg19356Gln | |
| XM_024453095.1:c.58064G>A (TTN) | XP_024308863.1:p.Arg19355Gln | |
| XM_024453096.1:c.57497G>A (TTN) | XP_024308864.1:p.Arg19166Gln | |
| XM_024453097.1:c.54839G>A (TTN) | XP_024308865.1:p.Arg18280Gln | |
| XM_024453098.1:c.54758G>A (TTN) | XP_024308866.1:p.Arg18253Gln | |
| XM_024453099.1:c.36521G>A (TTN) | XP_024308867.1:p.Arg12174Gln | |
| XM_024453100.1:c.26375G>A (TTN) | XP_024308868.1:p.Arg8792Gln |