Linked Data
ClinVar Variation Id:
238813
dbSNP Id:
rs202206216
ExAC:
2:179457330 C / T
gnomAD v2:
2-179457330-C-T
gnomAD v3:
2-178592603-C-T
gnomAD v4:
2-178592603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592603C>T , CM000664.2:g.178592603C>T | GRCh38 |
| NC_000002.11:g.179457330C>T , CM000664.1:g.179457330C>T | GRCh37 |
| NC_000002.10:g.179165576C>T | NCBI36 |
| NG_011618.3:g.243200G>A , LRG_391:g.243200G>A | |
| NG_051363.1:g.74777C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51698G>A (TTN) | ENSP00000343764.6:p.Gly17233Asp | |
| ENST00000342175.11:c.32783G>A (TTN) | ENSP00000340554.6:p.Gly10928Asp | |
| ENST00000359218.10:c.32582G>A (TTN) | ENSP00000352154.5:p.Gly10861Asp | |
| ENST00000342175.10:c.32783G>A (TTN) | ENSP00000340554.6:p.Gly10928Asp | |
| ENST00000342992.10:c.51698G>A (TTN) | ENSP00000343764.6:p.Gly17233Asp | |
| ENST00000359218.9:c.32582G>A (TTN) | ENSP00000352154.5:p.Gly10861Asp | |
| ENST00000460472.6:c.32207G>A (TTN) | ENSP00000434586.1:p.Gly10736Asp | |
| ENST00000589042.5:c.59402G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly19801Asp | |
| ENST00000591111.5:c.54479G>A (TTN) | ENSP00000465570.1:p.Gly18160Asp | |
| ENST00000615779.4:c.54479G>A (TTN) | ENSP00000483597.1:p.Gly18160Asp | |
| NM_001256850.1:c.54479G>A (TTN) | NP_001243779.1:p.Gly18160Asp | |
| NM_001267550.2:c.59402G>A (TTN) MANE Select | NP_001254479.2:p.Gly19801Asp | |
| NM_003319.4:c.32207G>A (TTN) | NP_003310.4:p.Gly10736Asp | |
| NM_133378.4:c.51698G>A (TTN) | NP_596869.4:p.Gly17233Asp | |
| NM_133432.3:c.32582G>A (TTN) | NP_597676.3:p.Gly10861Asp | |
| NM_133437.4:c.32783G>A (TTN) | NP_597681.4:p.Gly10928Asp | |
| NR_038271.1:n.597-4993C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1289C>T (TTN-AS1) | ||
| XM_011511729.1:c.58499G>A (TTN) | XP_011510031.1:p.Gly19500Asp | |
| XM_011511730.1:c.32393G>A (TTN) | XP_011510032.1:p.Gly10798Asp | |
| XM_011511731.1:c.32252G>A (TTN) | XP_011510033.1:p.Gly10751Asp | |
| XM_017004819.1:c.58295G>A (TTN) | XP_016860308.1:p.Gly19432Asp | |
| XM_017004820.1:c.53693G>A (TTN) | XP_016860309.1:p.Gly17898Asp | |
| XM_017004821.1:c.53690G>A (TTN) | XP_016860310.1:p.Gly17897Asp | |
| XM_017004822.1:c.50732G>A (TTN) | XP_016860311.1:p.Gly16911Asp | |
| XM_017004823.1:c.32348G>A (TTN) | XP_016860312.1:p.Gly10783Asp | |
| XM_024453094.1:c.53843G>A (TTN) | XP_024308862.1:p.Gly17948Asp | |
| XM_024453095.1:c.53840G>A (TTN) | XP_024308863.1:p.Gly17947Asp | |
| XM_024453096.1:c.53273G>A (TTN) | XP_024308864.1:p.Gly17758Asp | |
| XM_024453097.1:c.50615G>A (TTN) | XP_024308865.1:p.Gly16872Asp | |
| XM_024453098.1:c.50534G>A (TTN) | XP_024308866.1:p.Gly16845Asp | |
| XM_024453099.1:c.32297G>A (TTN) | XP_024308867.1:p.Gly10766Asp | |
| XM_024453100.1:c.22151G>A (TTN) | XP_024308868.1:p.Gly7384Asp |