Linked Data
ClinVar Variation Id:
202769
ClinVar RCV Id:
RCV000643775
RCV000997432
RCV001131031
RCV001133991
RCV001133992
RCV001133993
RCV001133994
RCV002336480
RCV003150069
dbSNP Id:
rs191549948
ExAC:
2:179453343 G / A
gnomAD v2:
2-179453343-G-A
gnomAD v3:
2-178588616-G-A
gnomAD v4:
2-178588616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588616G>A , CM000664.2:g.178588616G>A | GRCh38 |
| NC_000002.11:g.179453343G>A , CM000664.1:g.179453343G>A | GRCh37 |
| NC_000002.10:g.179161589G>A | NCBI36 |
| NG_011618.3:g.247187C>T , LRG_391:g.247187C>T | |
| NG_051363.1:g.70790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55405C>T (TTN) | ENSP00000343764.6:p.Arg18469Cys | |
| ENST00000342175.11:c.36490C>T (TTN) | ENSP00000340554.6:p.Arg12164Cys | |
| ENST00000359218.10:c.36289C>T (TTN) | ENSP00000352154.5:p.Arg12097Cys | |
| ENST00000342175.10:c.36490C>T (TTN) | ENSP00000340554.6:p.Arg12164Cys | |
| ENST00000342992.10:c.55405C>T (TTN) | ENSP00000343764.6:p.Arg18469Cys | |
| ENST00000359218.9:c.36289C>T (TTN) | ENSP00000352154.5:p.Arg12097Cys | |
| ENST00000460472.6:c.35914C>T (TTN) | ENSP00000434586.1:p.Arg11972Cys | |
| ENST00000589042.5:c.63109C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21037Cys | |
| ENST00000591111.5:c.58186C>T (TTN) | ENSP00000465570.1:p.Arg19396Cys | |
| ENST00000615779.4:c.58186C>T (TTN) | ENSP00000483597.1:p.Arg19396Cys | |
| NM_001256850.1:c.58186C>T (TTN) | NP_001243779.1:p.Arg19396Cys | |
| NM_001267550.2:c.63109C>T (TTN) MANE Select | NP_001254479.2:p.Arg21037Cys | |
| NM_003319.4:c.35914C>T (TTN) | NP_003310.4:p.Arg11972Cys | |
| NM_133378.4:c.55405C>T (TTN) | NP_596869.4:p.Arg18469Cys | |
| NM_133432.3:c.36289C>T (TTN) | NP_597676.3:p.Arg12097Cys | |
| NM_133437.4:c.36490C>T (TTN) | NP_597681.4:p.Arg12164Cys | |
| NR_038271.1:n.597-8980G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-2523G>A (TTN-AS1) | ||
| XM_011511729.1:c.62206C>T (TTN) | XP_011510031.1:p.Arg20736Cys | |
| XM_011511730.1:c.36100C>T (TTN) | XP_011510032.1:p.Arg12034Cys | |
| XM_011511731.1:c.35959C>T (TTN) | XP_011510033.1:p.Arg11987Cys | |
| XM_017004819.1:c.62002C>T (TTN) | XP_016860308.1:p.Arg20668Cys | |
| XM_017004820.1:c.57400C>T (TTN) | XP_016860309.1:p.Arg19134Cys | |
| XM_017004821.1:c.57397C>T (TTN) | XP_016860310.1:p.Arg19133Cys | |
| XM_017004822.1:c.54439C>T (TTN) | XP_016860311.1:p.Arg18147Cys | |
| XM_017004823.1:c.36055C>T (TTN) | XP_016860312.1:p.Arg12019Cys | |
| XM_024453094.1:c.57550C>T (TTN) | XP_024308862.1:p.Arg19184Cys | |
| XM_024453095.1:c.57547C>T (TTN) | XP_024308863.1:p.Arg19183Cys | |
| XM_024453096.1:c.56980C>T (TTN) | XP_024308864.1:p.Arg18994Cys | |
| XM_024453097.1:c.54322C>T (TTN) | XP_024308865.1:p.Arg18108Cys | |
| XM_024453098.1:c.54241C>T (TTN) | XP_024308866.1:p.Arg18081Cys | |
| XM_024453099.1:c.36004C>T (TTN) | XP_024308867.1:p.Arg12002Cys | |
| XM_024453100.1:c.25858C>T (TTN) | XP_024308868.1:p.Arg8620Cys |