Linked Data
ClinVar Variation Id:
448834
dbSNP Id:
rs368154623
ExAC:
2:179408733 T / A
gnomAD v2:
2-179408733-T-A
gnomAD v3:
2-178544006-T-A
gnomAD v4:
2-178544006-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544006T>A , CM000664.2:g.178544006T>A | GRCh38 |
| NC_000002.11:g.179408733T>A , CM000664.1:g.179408733T>A | GRCh37 |
| NC_000002.10:g.179116979T>A | NCBI36 |
| NG_011618.3:g.291797A>T , LRG_391:g.291797A>T | |
| NG_051363.1:g.26180T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88434A>T (TTN) | ENSP00000343764.6:p.Ile29478= | |
| ENST00000342175.11:c.69519A>T (TTN) | ENSP00000340554.6:p.Ile23173= | |
| ENST00000359218.10:c.69318A>T (TTN) | ENSP00000352154.5:p.Ile23106= | |
| ENST00000342175.10:c.69519A>T (TTN) | ENSP00000340554.6:p.Ile23173= | |
| ENST00000342992.10:c.88434A>T (TTN) | ENSP00000343764.6:p.Ile29478= | |
| ENST00000359218.9:c.69318A>T (TTN) | ENSP00000352154.5:p.Ile23106= | |
| ENST00000460472.6:c.68943A>T (TTN) | ENSP00000434586.1:p.Ile22981= | |
| ENST00000589042.5:c.96138A>T (TTN) MANE Select | ENSP00000467141.1:p.Ile32046= | |
| ENST00000591111.5:c.91215A>T (TTN) | ENSP00000465570.1:p.Ile30405= | |
| ENST00000615779.4:c.91215A>T (TTN) | ENSP00000483597.1:p.Ile30405= | |
| NM_001256850.1:c.91215A>T (TTN) | NP_001243779.1:p.Ile30405= | |
| NM_001267550.2:c.96138A>T (TTN) MANE Select | NP_001254479.2:p.Ile32046= | |
| NM_003319.4:c.68943A>T (TTN) | NP_003310.4:p.Ile22981= | |
| NM_133378.4:c.88434A>T (TTN) | NP_596869.4:p.Ile29478= | |
| NM_133432.3:c.69318A>T (TTN) | NP_597676.3:p.Ile23106= | |
| NM_133437.4:c.69519A>T (TTN) | NP_597681.4:p.Ile23173= | |
| NR_038271.1:n.446+20370T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1645T>A (TTN-AS1) | ||
| XM_011511729.1:c.95235A>T (TTN) | XP_011510031.1:p.Ile31745= | |
| XM_011511730.1:c.69129A>T (TTN) | XP_011510032.1:p.Ile23043= | |
| XM_011511731.1:c.68988A>T (TTN) | XP_011510033.1:p.Ile22996= | |
| XM_017004819.1:c.95031A>T (TTN) | XP_016860308.1:p.Ile31677= | |
| XM_017004820.1:c.90429A>T (TTN) | XP_016860309.1:p.Ile30143= | |
| XM_017004821.1:c.90426A>T (TTN) | XP_016860310.1:p.Ile30142= | |
| XM_017004822.1:c.87468A>T (TTN) | XP_016860311.1:p.Ile29156= | |
| XM_017004823.1:c.69084A>T (TTN) | XP_016860312.1:p.Ile23028= | |
| XM_024453094.1:c.90579A>T (TTN) | XP_024308862.1:p.Ile30193= | |
| XM_024453095.1:c.90576A>T (TTN) | XP_024308863.1:p.Ile30192= | |
| XM_024453096.1:c.90009A>T (TTN) | XP_024308864.1:p.Ile30003= | |
| XM_024453097.1:c.87351A>T (TTN) | XP_024308865.1:p.Ile29117= | |
| XM_024453098.1:c.87270A>T (TTN) | XP_024308866.1:p.Ile29090= | |
| XM_024453099.1:c.69033A>T (TTN) | XP_024308867.1:p.Ile23011= | |
| XM_024453100.1:c.58887A>T (TTN) | XP_024308868.1:p.Ile19629= |