Linked Data
ClinVar Variation Id:
178196
ClinVar RCV Id:
RCV000154926
RCV000172272
RCV000234385
RCV000248442
RCV000261085
RCV000262197
RCV000316255
RCV000370118
RCV000375502
dbSNP Id:
rs200797552
ExAC:
2:179442805 C / T
gnomAD v2:
2-179442805-C-T
gnomAD v3:
2-178578078-C-T
gnomAD v4:
2-178578078-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578078C>T , CM000664.2:g.178578078C>T | GRCh38 |
| NC_000002.11:g.179442805C>T , CM000664.1:g.179442805C>T | GRCh37 |
| NC_000002.10:g.179151051C>T | NCBI36 |
| NG_011618.3:g.257725G>A , LRG_391:g.257725G>A | |
| NG_051363.1:g.60252C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.60733G>A (TTN) | ENSP00000343764.6:p.Glu20245Lys | |
| ENST00000342175.11:c.41818G>A (TTN) | ENSP00000340554.6:p.Glu13940Lys | |
| ENST00000359218.10:c.41617G>A (TTN) | ENSP00000352154.5:p.Glu13873Lys | |
| ENST00000342175.10:c.41818G>A (TTN) | ENSP00000340554.6:p.Glu13940Lys | |
| ENST00000342992.10:c.60733G>A (TTN) | ENSP00000343764.6:p.Glu20245Lys | |
| ENST00000359218.9:c.41617G>A (TTN) | ENSP00000352154.5:p.Glu13873Lys | |
| ENST00000460472.6:c.41242G>A (TTN) | ENSP00000434586.1:p.Glu13748Lys | |
| ENST00000589042.5:c.68437G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu22813Lys | |
| ENST00000591111.5:c.63514G>A (TTN) | ENSP00000465570.1:p.Glu21172Lys | |
| ENST00000615779.4:c.63514G>A (TTN) | ENSP00000483597.1:p.Glu21172Lys | |
| NM_001256850.1:c.63514G>A (TTN) | NP_001243779.1:p.Glu21172Lys | |
| NM_001267550.2:c.68437G>A (TTN) MANE Select | NP_001254479.2:p.Glu22813Lys | |
| NM_003319.4:c.41242G>A (TTN) | NP_003310.4:p.Glu13748Lys | |
| NM_133378.4:c.60733G>A (TTN) | NP_596869.4:p.Glu20245Lys | |
| NM_133432.3:c.41617G>A (TTN) | NP_597676.3:p.Glu13873Lys | |
| NM_133437.4:c.41818G>A (TTN) | NP_597681.4:p.Glu13940Lys | |
| NR_038271.1:n.596+6629C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4494C>T (TTN-AS1) | ||
| XM_011511729.1:c.67534G>A (TTN) | XP_011510031.1:p.Glu22512Lys | |
| XM_011511730.1:c.41428G>A (TTN) | XP_011510032.1:p.Glu13810Lys | |
| XM_011511731.1:c.41287G>A (TTN) | XP_011510033.1:p.Glu13763Lys | |
| XM_017004819.1:c.67330G>A (TTN) | XP_016860308.1:p.Glu22444Lys | |
| XM_017004820.1:c.62728G>A (TTN) | XP_016860309.1:p.Glu20910Lys | |
| XM_017004821.1:c.62725G>A (TTN) | XP_016860310.1:p.Glu20909Lys | |
| XM_017004822.1:c.59767G>A (TTN) | XP_016860311.1:p.Glu19923Lys | |
| XM_017004823.1:c.41383G>A (TTN) | XP_016860312.1:p.Glu13795Lys | |
| XM_024453094.1:c.62878G>A (TTN) | XP_024308862.1:p.Glu20960Lys | |
| XM_024453095.1:c.62875G>A (TTN) | XP_024308863.1:p.Glu20959Lys | |
| XM_024453096.1:c.62308G>A (TTN) | XP_024308864.1:p.Glu20770Lys | |
| XM_024453097.1:c.59650G>A (TTN) | XP_024308865.1:p.Glu19884Lys | |
| XM_024453098.1:c.59569G>A (TTN) | XP_024308866.1:p.Glu19857Lys | |
| XM_024453099.1:c.41332G>A (TTN) | XP_024308867.1:p.Glu13778Lys | |
| XM_024453100.1:c.31186G>A (TTN) | XP_024308868.1:p.Glu10396Lys |