Linked Data
ClinVar Variation Id:
467225
ClinVar RCV Id:
RCV000555019
RCV001130078
RCV001130079
RCV001130080
RCV001130081
RCV001130777
RCV001700146
dbSNP Id:
rs774137928
ExAC:
2:179476359 C / T
gnomAD v2:
2-179476359-C-T
gnomAD v3:
2-178611632-C-T
gnomAD v4:
2-178611632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611632C>T , CM000664.2:g.178611632C>T | GRCh38 |
| NC_000002.11:g.179476359C>T , CM000664.1:g.179476359C>T | GRCh37 |
| NC_000002.10:g.179184604C>T | NCBI36 |
| NG_011618.3:g.224171G>A , LRG_391:g.224171G>A | |
| NG_051363.1:g.93806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42893G>A (TTN) | ENSP00000343764.6:p.Arg14298Lys | |
| ENST00000342175.11:c.23978G>A (TTN) | ENSP00000340554.6:p.Arg7993Lys | |
| ENST00000359218.10:c.23777G>A (TTN) | ENSP00000352154.5:p.Arg7926Lys | |
| ENST00000342175.10:c.23978G>A (TTN) | ENSP00000340554.6:p.Arg7993Lys | |
| ENST00000342992.10:c.42893G>A (TTN) | ENSP00000343764.6:p.Arg14298Lys | |
| ENST00000359218.9:c.23777G>A (TTN) | ENSP00000352154.5:p.Arg7926Lys | |
| ENST00000460472.6:c.23402G>A (TTN) | ENSP00000434586.1:p.Arg7801Lys | |
| ENST00000589042.5:c.50597G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16866Lys | |
| ENST00000591111.5:c.45674G>A (TTN) | ENSP00000465570.1:p.Arg15225Lys | |
| ENST00000615779.4:c.45674G>A (TTN) | ENSP00000483597.1:p.Arg15225Lys | |
| NM_001256850.1:c.45674G>A (TTN) | NP_001243779.1:p.Arg15225Lys | |
| NM_001267550.2:c.50597G>A (TTN) MANE Select | NP_001254479.2:p.Arg16866Lys | |
| NM_003319.4:c.23402G>A (TTN) | NP_003310.4:p.Arg7801Lys | |
| NM_133378.4:c.42893G>A (TTN) | NP_596869.4:p.Arg14298Lys | |
| NM_133432.3:c.23777G>A (TTN) | NP_597676.3:p.Arg7926Lys | |
| NM_133437.4:c.23978G>A (TTN) | NP_597681.4:p.Arg7993Lys | |
| NR_038271.1:n.783-2403C>T (TTN-AS1) | ||
| XM_011511729.1:c.49694G>A (TTN) | XP_011510031.1:p.Arg16565Lys | |
| XM_011511730.1:c.23588G>A (TTN) | XP_011510032.1:p.Arg7863Lys | |
| XM_011511731.1:c.23447G>A (TTN) | XP_011510033.1:p.Arg7816Lys | |
| XM_017004819.1:c.49490G>A (TTN) | XP_016860308.1:p.Arg16497Lys | |
| XM_017004820.1:c.44888G>A (TTN) | XP_016860309.1:p.Arg14963Lys | |
| XM_017004821.1:c.44885G>A (TTN) | XP_016860310.1:p.Arg14962Lys | |
| XM_017004822.1:c.41927G>A (TTN) | XP_016860311.1:p.Arg13976Lys | |
| XM_017004823.1:c.23543G>A (TTN) | XP_016860312.1:p.Arg7848Lys | |
| XM_024453094.1:c.45038G>A (TTN) | XP_024308862.1:p.Arg15013Lys | |
| XM_024453095.1:c.45035G>A (TTN) | XP_024308863.1:p.Arg15012Lys | |
| XM_024453096.1:c.44468G>A (TTN) | XP_024308864.1:p.Arg14823Lys | |
| XM_024453097.1:c.41810G>A (TTN) | XP_024308865.1:p.Arg13937Lys | |
| XM_024453098.1:c.41729G>A (TTN) | XP_024308866.1:p.Arg13910Lys | |
| XM_024453099.1:c.23492G>A (TTN) | XP_024308867.1:p.Arg7831Lys | |
| XM_024453100.1:c.13346G>A (TTN) | XP_024308868.1:p.Arg4449Lys |