Linked Data
ClinVar Variation Id:
47047
dbSNP Id:
rs397517601
gnomAD v2:
2-179476338-C-T
gnomAD v4:
2-178611611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611611C>T , CM000664.2:g.178611611C>T | GRCh38 |
| NC_000002.11:g.179476338C>T , CM000664.1:g.179476338C>T | GRCh37 |
| NC_000002.10:g.179184583C>T | NCBI36 |
| NG_011618.3:g.224192G>A , LRG_391:g.224192G>A | |
| NG_051363.1:g.93785C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42914G>A (TTN) | ENSP00000343764.6:p.Trp14305Ter | |
| ENST00000342175.11:c.23999G>A (TTN) | ENSP00000340554.6:p.Trp8000Ter | |
| ENST00000359218.10:c.23798G>A (TTN) | ENSP00000352154.5:p.Trp7933Ter | |
| ENST00000342175.10:c.23999G>A (TTN) | ENSP00000340554.6:p.Trp8000Ter | |
| ENST00000342992.10:c.42914G>A (TTN) | ENSP00000343764.6:p.Trp14305Ter | |
| ENST00000359218.9:c.23798G>A (TTN) | ENSP00000352154.5:p.Trp7933Ter | |
| ENST00000460472.6:c.23423G>A (TTN) | ENSP00000434586.1:p.Trp7808Ter | |
| ENST00000589042.5:c.50618G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp16873Ter | |
| ENST00000591111.5:c.45695G>A (TTN) | ENSP00000465570.1:p.Trp15232Ter | |
| ENST00000615779.4:c.45695G>A (TTN) | ENSP00000483597.1:p.Trp15232Ter | |
| NM_001256850.1:c.45695G>A (TTN) | NP_001243779.1:p.Trp15232Ter | |
| NM_001267550.2:c.50618G>A (TTN) MANE Select | NP_001254479.2:p.Trp16873Ter | |
| NM_003319.4:c.23423G>A (TTN) | NP_003310.4:p.Trp7808Ter | |
| NM_133378.4:c.42914G>A (TTN) | NP_596869.4:p.Trp14305Ter | |
| NM_133432.3:c.23798G>A (TTN) | NP_597676.3:p.Trp7933Ter | |
| NM_133437.4:c.23999G>A (TTN) | NP_597681.4:p.Trp8000Ter | |
| NR_038271.1:n.783-2424C>T (TTN-AS1) | ||
| XM_011511729.1:c.49715G>A (TTN) | XP_011510031.1:p.Trp16572Ter | |
| XM_011511730.1:c.23609G>A (TTN) | XP_011510032.1:p.Trp7870Ter | |
| XM_011511731.1:c.23468G>A (TTN) | XP_011510033.1:p.Trp7823Ter | |
| XM_017004819.1:c.49511G>A (TTN) | XP_016860308.1:p.Trp16504Ter | |
| XM_017004820.1:c.44909G>A (TTN) | XP_016860309.1:p.Trp14970Ter | |
| XM_017004821.1:c.44906G>A (TTN) | XP_016860310.1:p.Trp14969Ter | |
| XM_017004822.1:c.41948G>A (TTN) | XP_016860311.1:p.Trp13983Ter | |
| XM_017004823.1:c.23564G>A (TTN) | XP_016860312.1:p.Trp7855Ter | |
| XM_024453094.1:c.45059G>A (TTN) | XP_024308862.1:p.Trp15020Ter | |
| XM_024453095.1:c.45056G>A (TTN) | XP_024308863.1:p.Trp15019Ter | |
| XM_024453096.1:c.44489G>A (TTN) | XP_024308864.1:p.Trp14830Ter | |
| XM_024453097.1:c.41831G>A (TTN) | XP_024308865.1:p.Trp13944Ter | |
| XM_024453098.1:c.41750G>A (TTN) | XP_024308866.1:p.Trp13917Ter | |
| XM_024453099.1:c.23513G>A (TTN) | XP_024308867.1:p.Trp7838Ter | |
| XM_024453100.1:c.13367G>A (TTN) | XP_024308868.1:p.Trp4456Ter |