Linked Data
ClinVar Variation Id:
223385
dbSNP Id:
rs779996703
gnomAD v3:
2-178567141-G-A
gnomAD v4:
2-178567141-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567141G>A , CM000664.2:g.178567141G>A | GRCh38 |
| NC_000002.11:g.179431868G>A , CM000664.1:g.179431868G>A | GRCh37 |
| NC_000002.10:g.179140114G>A | NCBI36 |
| NG_011618.3:g.268662C>T , LRG_391:g.268662C>T | |
| NG_051363.1:g.49315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71287C>T (TTN) | ENSP00000343764.6:p.Arg23763Ter | |
| ENST00000342175.11:c.52372C>T (TTN) | ENSP00000340554.6:p.Arg17458Ter | |
| ENST00000359218.10:c.52171C>T (TTN) | ENSP00000352154.5:p.Arg17391Ter | |
| ENST00000342175.10:c.52372C>T (TTN) | ENSP00000340554.6:p.Arg17458Ter | |
| ENST00000342992.10:c.71287C>T (TTN) | ENSP00000343764.6:p.Arg23763Ter | |
| ENST00000359218.9:c.52171C>T (TTN) | ENSP00000352154.5:p.Arg17391Ter | |
| ENST00000460472.6:c.51796C>T (TTN) | ENSP00000434586.1:p.Arg17266Ter | |
| ENST00000589042.5:c.78991C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26331Ter | |
| ENST00000591111.5:c.74068C>T (TTN) | ENSP00000465570.1:p.Arg24690Ter | |
| ENST00000615779.4:c.74068C>T (TTN) | ENSP00000483597.1:p.Arg24690Ter | |
| NM_001256850.1:c.74068C>T (TTN) | NP_001243779.1:p.Arg24690Ter | |
| NM_001267550.2:c.78991C>T (TTN) MANE Select | NP_001254479.2:p.Arg26331Ter | |
| NM_003319.4:c.51796C>T (TTN) | NP_003310.4:p.Arg17266Ter | |
| NM_133378.4:c.71287C>T (TTN) | NP_596869.4:p.Arg23763Ter | |
| NM_133432.3:c.52171C>T (TTN) | NP_597676.3:p.Arg17391Ter | |
| NM_133437.4:c.52372C>T (TTN) | NP_597681.4:p.Arg17458Ter | |
| NR_038271.1:n.447-4159G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-15431G>A (TTN-AS1) | ||
| XM_011511729.1:c.78088C>T (TTN) | XP_011510031.1:p.Arg26030Ter | |
| XM_011511730.1:c.51982C>T (TTN) | XP_011510032.1:p.Arg17328Ter | |
| XM_011511731.1:c.51841C>T (TTN) | XP_011510033.1:p.Arg17281Ter | |
| XM_017004819.1:c.77884C>T (TTN) | XP_016860308.1:p.Arg25962Ter | |
| XM_017004820.1:c.73282C>T (TTN) | XP_016860309.1:p.Arg24428Ter | |
| XM_017004821.1:c.73279C>T (TTN) | XP_016860310.1:p.Arg24427Ter | |
| XM_017004822.1:c.70321C>T (TTN) | XP_016860311.1:p.Arg23441Ter | |
| XM_017004823.1:c.51937C>T (TTN) | XP_016860312.1:p.Arg17313Ter | |
| XM_024453094.1:c.73432C>T (TTN) | XP_024308862.1:p.Arg24478Ter | |
| XM_024453095.1:c.73429C>T (TTN) | XP_024308863.1:p.Arg24477Ter | |
| XM_024453096.1:c.72862C>T (TTN) | XP_024308864.1:p.Arg24288Ter | |
| XM_024453097.1:c.70204C>T (TTN) | XP_024308865.1:p.Arg23402Ter | |
| XM_024453098.1:c.70123C>T (TTN) | XP_024308866.1:p.Arg23375Ter | |
| XM_024453099.1:c.51886C>T (TTN) | XP_024308867.1:p.Arg17296Ter | |
| XM_024453100.1:c.41740C>T (TTN) | XP_024308868.1:p.Arg13914Ter |