Linked Data
ClinVar Variation Id:
283015
dbSNP Id:
rs886042536
gnomAD v2:
2-179476869-C-T
gnomAD v3:
2-178612142-C-T
gnomAD v4:
2-178612142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612142C>T , CM000664.2:g.178612142C>T | GRCh38 |
| NC_000002.11:g.179476869C>T , CM000664.1:g.179476869C>T | GRCh37 |
| NC_000002.10:g.179185114C>T | NCBI36 |
| NG_011618.3:g.223661G>A , LRG_391:g.223661G>A | |
| NG_051363.1:g.94316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42565G>A (TTN) | ENSP00000343764.6:p.Ala14189Thr | |
| ENST00000342175.11:c.23650G>A (TTN) | ENSP00000340554.6:p.Ala7884Thr | |
| ENST00000359218.10:c.23449G>A (TTN) | ENSP00000352154.5:p.Ala7817Thr | |
| ENST00000342175.10:c.23650G>A (TTN) | ENSP00000340554.6:p.Ala7884Thr | |
| ENST00000342992.10:c.42565G>A (TTN) | ENSP00000343764.6:p.Ala14189Thr | |
| ENST00000359218.9:c.23449G>A (TTN) | ENSP00000352154.5:p.Ala7817Thr | |
| ENST00000460472.6:c.23074G>A (TTN) | ENSP00000434586.1:p.Ala7692Thr | |
| ENST00000589042.5:c.50269G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala16757Thr | |
| ENST00000591111.5:c.45346G>A (TTN) | ENSP00000465570.1:p.Ala15116Thr | |
| ENST00000615779.4:c.45346G>A (TTN) | ENSP00000483597.1:p.Ala15116Thr | |
| NM_001256850.1:c.45346G>A (TTN) | NP_001243779.1:p.Ala15116Thr | |
| NM_001267550.2:c.50269G>A (TTN) MANE Select | NP_001254479.2:p.Ala16757Thr | |
| NM_003319.4:c.23074G>A (TTN) | NP_003310.4:p.Ala7692Thr | |
| NM_133378.4:c.42565G>A (TTN) | NP_596869.4:p.Ala14189Thr | |
| NM_133432.3:c.23449G>A (TTN) | NP_597676.3:p.Ala7817Thr | |
| NM_133437.4:c.23650G>A (TTN) | NP_597681.4:p.Ala7884Thr | |
| NR_038271.1:n.783-1893C>T (TTN-AS1) | ||
| XM_011511729.1:c.49366G>A (TTN) | XP_011510031.1:p.Ala16456Thr | |
| XM_011511730.1:c.23260G>A (TTN) | XP_011510032.1:p.Ala7754Thr | |
| XM_011511731.1:c.23119G>A (TTN) | XP_011510033.1:p.Ala7707Thr | |
| XM_017004819.1:c.49162G>A (TTN) | XP_016860308.1:p.Ala16388Thr | |
| XM_017004820.1:c.44560G>A (TTN) | XP_016860309.1:p.Ala14854Thr | |
| XM_017004821.1:c.44557G>A (TTN) | XP_016860310.1:p.Ala14853Thr | |
| XM_017004822.1:c.41599G>A (TTN) | XP_016860311.1:p.Ala13867Thr | |
| XM_017004823.1:c.23215G>A (TTN) | XP_016860312.1:p.Ala7739Thr | |
| XM_024453094.1:c.44710G>A (TTN) | XP_024308862.1:p.Ala14904Thr | |
| XM_024453095.1:c.44707G>A (TTN) | XP_024308863.1:p.Ala14903Thr | |
| XM_024453096.1:c.44140G>A (TTN) | XP_024308864.1:p.Ala14714Thr | |
| XM_024453097.1:c.41482G>A (TTN) | XP_024308865.1:p.Ala13828Thr | |
| XM_024453098.1:c.41401G>A (TTN) | XP_024308866.1:p.Ala13801Thr | |
| XM_024453099.1:c.23164G>A (TTN) | XP_024308867.1:p.Ala7722Thr | |
| XM_024453100.1:c.13018G>A (TTN) | XP_024308868.1:p.Ala4340Thr |