Linked Data
ClinVar Variation Id:
263610
dbSNP Id:
rs374472044
ExAC:
2:179454028 G / A
gnomAD v2:
2-179454028-G-A
gnomAD v3:
2-178589301-G-A
gnomAD v4:
2-178589301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589301G>A , CM000664.2:g.178589301G>A | GRCh38 |
| NC_000002.11:g.179454028G>A , CM000664.1:g.179454028G>A | GRCh37 |
| NC_000002.10:g.179162274G>A | NCBI36 |
| NG_011618.3:g.246502C>T , LRG_391:g.246502C>T | |
| NG_051363.1:g.71475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54720C>T (TTN) | ENSP00000343764.6:p.Asp18240= | |
| ENST00000342175.11:c.35805C>T (TTN) | ENSP00000340554.6:p.Asp11935= | |
| ENST00000359218.10:c.35604C>T (TTN) | ENSP00000352154.5:p.Asp11868= | |
| ENST00000342175.10:c.35805C>T (TTN) | ENSP00000340554.6:p.Asp11935= | |
| ENST00000342992.10:c.54720C>T (TTN) | ENSP00000343764.6:p.Asp18240= | |
| ENST00000359218.9:c.35604C>T (TTN) | ENSP00000352154.5:p.Asp11868= | |
| ENST00000460472.6:c.35229C>T (TTN) | ENSP00000434586.1:p.Asp11743= | |
| ENST00000589042.5:c.62424C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp20808= | |
| ENST00000591111.5:c.57501C>T (TTN) | ENSP00000465570.1:p.Asp19167= | |
| ENST00000615779.4:c.57501C>T (TTN) | ENSP00000483597.1:p.Asp19167= | |
| NM_001256850.1:c.57501C>T (TTN) | NP_001243779.1:p.Asp19167= | |
| NM_001267550.2:c.62424C>T (TTN) MANE Select | NP_001254479.2:p.Asp20808= | |
| NM_003319.4:c.35229C>T (TTN) | NP_003310.4:p.Asp11743= | |
| NM_133378.4:c.54720C>T (TTN) | NP_596869.4:p.Asp18240= | |
| NM_133432.3:c.35604C>T (TTN) | NP_597676.3:p.Asp11868= | |
| NM_133437.4:c.35805C>T (TTN) | NP_597681.4:p.Asp11935= | |
| NR_038271.1:n.597-8295G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1838G>A (TTN-AS1) | ||
| XM_011511729.1:c.61521C>T (TTN) | XP_011510031.1:p.Asp20507= | |
| XM_011511730.1:c.35415C>T (TTN) | XP_011510032.1:p.Asp11805= | |
| XM_011511731.1:c.35274C>T (TTN) | XP_011510033.1:p.Asp11758= | |
| XM_017004819.1:c.61317C>T (TTN) | XP_016860308.1:p.Asp20439= | |
| XM_017004820.1:c.56715C>T (TTN) | XP_016860309.1:p.Asp18905= | |
| XM_017004821.1:c.56712C>T (TTN) | XP_016860310.1:p.Asp18904= | |
| XM_017004822.1:c.53754C>T (TTN) | XP_016860311.1:p.Asp17918= | |
| XM_017004823.1:c.35370C>T (TTN) | XP_016860312.1:p.Asp11790= | |
| XM_024453094.1:c.56865C>T (TTN) | XP_024308862.1:p.Asp18955= | |
| XM_024453095.1:c.56862C>T (TTN) | XP_024308863.1:p.Asp18954= | |
| XM_024453096.1:c.56295C>T (TTN) | XP_024308864.1:p.Asp18765= | |
| XM_024453097.1:c.53637C>T (TTN) | XP_024308865.1:p.Asp17879= | |
| XM_024453098.1:c.53556C>T (TTN) | XP_024308866.1:p.Asp17852= | |
| XM_024453099.1:c.35319C>T (TTN) | XP_024308867.1:p.Asp11773= | |
| XM_024453100.1:c.25173C>T (TTN) | XP_024308868.1:p.Asp8391= |