Linked Data
ClinVar Variation Id:
264588
dbSNP Id:
rs745468223
ExAC:
2:179404587 T / G
gnomAD v2:
2-179404587-T-G
gnomAD v3:
2-178539860-T-G
gnomAD v4:
2-178539860-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539860T>G , CM000664.2:g.178539860T>G | GRCh38 |
| NC_000002.11:g.179404587T>G , CM000664.1:g.179404587T>G | GRCh37 |
| NC_000002.10:g.179112833T>G | NCBI36 |
| NG_011618.3:g.295943A>C , LRG_391:g.295943A>C | |
| NG_051363.1:g.22034T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90501A>C (TTN) | ENSP00000343764.6:p.Ile30167= | |
| ENST00000342175.11:c.71586A>C (TTN) | ENSP00000340554.6:p.Ile23862= | |
| ENST00000359218.10:c.71385A>C (TTN) | ENSP00000352154.5:p.Ile23795= | |
| ENST00000342175.10:c.71586A>C (TTN) | ENSP00000340554.6:p.Ile23862= | |
| ENST00000342992.10:c.90501A>C (TTN) | ENSP00000343764.6:p.Ile30167= | |
| ENST00000359218.9:c.71385A>C (TTN) | ENSP00000352154.5:p.Ile23795= | |
| ENST00000460472.6:c.71010A>C (TTN) | ENSP00000434586.1:p.Ile23670= | |
| ENST00000589042.5:c.98205A>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32735= | |
| ENST00000591111.5:c.93282A>C (TTN) | ENSP00000465570.1:p.Ile31094= | |
| ENST00000615779.4:c.93282A>C (TTN) | ENSP00000483597.1:p.Ile31094= | |
| NM_001256850.1:c.93282A>C (TTN) | NP_001243779.1:p.Ile31094= | |
| NM_001267550.2:c.98205A>C (TTN) MANE Select | NP_001254479.2:p.Ile32735= | |
| NM_003319.4:c.71010A>C (TTN) | NP_003310.4:p.Ile23670= | |
| NM_133378.4:c.90501A>C (TTN) | NP_596869.4:p.Ile30167= | |
| NM_133432.3:c.71385A>C (TTN) | NP_597676.3:p.Ile23795= | |
| NM_133437.4:c.71586A>C (TTN) | NP_597681.4:p.Ile23862= | |
| NR_038271.1:n.446+16224T>G (TTN-AS1) | ||
| NR_038272.1:n.1810T>G (TTN-AS1) | ||
| XM_011511729.1:c.97302A>C (TTN) | XP_011510031.1:p.Ile32434= | |
| XM_011511730.1:c.71196A>C (TTN) | XP_011510032.1:p.Ile23732= | |
| XM_011511731.1:c.71055A>C (TTN) | XP_011510033.1:p.Ile23685= | |
| XM_017004819.1:c.97098A>C (TTN) | XP_016860308.1:p.Ile32366= | |
| XM_017004820.1:c.92496A>C (TTN) | XP_016860309.1:p.Ile30832= | |
| XM_017004821.1:c.92493A>C (TTN) | XP_016860310.1:p.Ile30831= | |
| XM_017004822.1:c.89535A>C (TTN) | XP_016860311.1:p.Ile29845= | |
| XM_017004823.1:c.71151A>C (TTN) | XP_016860312.1:p.Ile23717= | |
| XM_024453094.1:c.92646A>C (TTN) | XP_024308862.1:p.Ile30882= | |
| XM_024453095.1:c.92643A>C (TTN) | XP_024308863.1:p.Ile30881= | |
| XM_024453096.1:c.92076A>C (TTN) | XP_024308864.1:p.Ile30692= | |
| XM_024453097.1:c.89418A>C (TTN) | XP_024308865.1:p.Ile29806= | |
| XM_024453098.1:c.89337A>C (TTN) | XP_024308866.1:p.Ile29779= | |
| XM_024453099.1:c.71100A>C (TTN) | XP_024308867.1:p.Ile23700= | |
| XM_024453100.1:c.60954A>C (TTN) | XP_024308868.1:p.Ile20318= |