Linked Data
ClinVar Variation Id:
2566437
ClinVar RCV Id:
RCV003306556
dbSNP Id:
rs1251278883
gnomAD v2:
2-179396999-C-T
gnomAD v4:
2-178532272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532272C>T , CM000664.2:g.178532272C>T | GRCh38 |
| NC_000002.11:g.179396999C>T , CM000664.1:g.179396999C>T | GRCh37 |
| NC_000002.10:g.179105245C>T | NCBI36 |
| NG_011618.3:g.303531G>A , LRG_391:g.303531G>A | |
| NG_051363.1:g.14446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96639G>A (TTN) | ENSP00000343764.6:p.Gln32213= | |
| ENST00000342175.11:c.77724G>A (TTN) | ENSP00000340554.6:p.Gln25908= | |
| ENST00000359218.10:c.77523G>A (TTN) | ENSP00000352154.5:p.Gln25841= | |
| ENST00000342175.10:c.77724G>A (TTN) | ENSP00000340554.6:p.Gln25908= | |
| ENST00000342992.10:c.96639G>A (TTN) | ENSP00000343764.6:p.Gln32213= | |
| ENST00000359218.9:c.77523G>A (TTN) | ENSP00000352154.5:p.Gln25841= | |
| ENST00000460472.6:c.77148G>A (TTN) | ENSP00000434586.1:p.Gln25716= | |
| ENST00000589042.5:c.104343G>A (TTN) MANE Select | ENSP00000467141.1:p.Gln34781= | |
| ENST00000591111.5:c.99420G>A (TTN) | ENSP00000465570.1:p.Gln33140= | |
| ENST00000615779.4:c.99420G>A (TTN) | ENSP00000483597.1:p.Gln33140= | |
| NM_001256850.1:c.99420G>A (TTN) | NP_001243779.1:p.Gln33140= | |
| NM_001267550.2:c.104343G>A (TTN) MANE Select | NP_001254479.2:p.Gln34781= | |
| NM_003319.4:c.77148G>A (TTN) | NP_003310.4:p.Gln25716= | |
| NM_133378.4:c.96639G>A (TTN) | NP_596869.4:p.Gln32213= | |
| NM_133432.3:c.77523G>A (TTN) | NP_597676.3:p.Gln25841= | |
| NM_133437.4:c.77724G>A (TTN) | NP_597681.4:p.Gln25908= | |
| NR_038271.1:n.446+8636C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3460C>T (TTN-AS1) | ||
| XM_011511729.1:c.103440G>A (TTN) | XP_011510031.1:p.Gln34480= | |
| XM_011511730.1:c.77334G>A (TTN) | XP_011510032.1:p.Gln25778= | |
| XM_011511731.1:c.77193G>A (TTN) | XP_011510033.1:p.Gln25731= | |
| XM_017004819.1:c.103236G>A (TTN) | XP_016860308.1:p.Gln34412= | |
| XM_017004820.1:c.98634G>A (TTN) | XP_016860309.1:p.Gln32878= | |
| XM_017004821.1:c.98631G>A (TTN) | XP_016860310.1:p.Gln32877= | |
| XM_017004822.1:c.95673G>A (TTN) | XP_016860311.1:p.Gln31891= | |
| XM_017004823.1:c.77289G>A (TTN) | XP_016860312.1:p.Gln25763= | |
| XM_024453094.1:c.98784G>A (TTN) | XP_024308862.1:p.Gln32928= | |
| XM_024453095.1:c.98781G>A (TTN) | XP_024308863.1:p.Gln32927= | |
| XM_024453096.1:c.98214G>A (TTN) | XP_024308864.1:p.Gln32738= | |
| XM_024453097.1:c.95556G>A (TTN) | XP_024308865.1:p.Gln31852= | |
| XM_024453098.1:c.95475G>A (TTN) | XP_024308866.1:p.Gln31825= | |
| XM_024453099.1:c.77238G>A (TTN) | XP_024308867.1:p.Gln25746= | |
| XM_024453100.1:c.67092G>A (TTN) | XP_024308868.1:p.Gln22364= |