Linked Data
ClinVar Variation Id:
96302
dbSNP Id:
rs398124455
ExAC:
2:179438692 C / T
gnomAD v2:
2-179438692-C-T
gnomAD v3:
2-178573965-C-T
gnomAD v4:
2-178573965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573965C>T , CM000664.2:g.178573965C>T | GRCh38 |
| NC_000002.11:g.179438692C>T , CM000664.1:g.179438692C>T | GRCh37 |
| NC_000002.10:g.179146938C>T | NCBI36 |
| NG_011618.3:g.261838G>A , LRG_391:g.261838G>A | |
| NG_051363.1:g.56139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64463G>A (TTN) | ENSP00000343764.6:p.Arg21488His | |
| ENST00000342175.11:c.45548G>A (TTN) | ENSP00000340554.6:p.Arg15183His | |
| ENST00000359218.10:c.45347G>A (TTN) | ENSP00000352154.5:p.Arg15116His | |
| ENST00000342175.10:c.45548G>A (TTN) | ENSP00000340554.6:p.Arg15183His | |
| ENST00000342992.10:c.64463G>A (TTN) | ENSP00000343764.6:p.Arg21488His | |
| ENST00000359218.9:c.45347G>A (TTN) | ENSP00000352154.5:p.Arg15116His | |
| ENST00000460472.6:c.44972G>A (TTN) | ENSP00000434586.1:p.Arg14991His | |
| ENST00000589042.5:c.72167G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24056His | |
| ENST00000591111.5:c.67244G>A (TTN) | ENSP00000465570.1:p.Arg22415His | |
| ENST00000615779.4:c.67244G>A (TTN) | ENSP00000483597.1:p.Arg22415His | |
| NM_001256850.1:c.67244G>A (TTN) | NP_001243779.1:p.Arg22415His | |
| NM_001267550.2:c.72167G>A (TTN) MANE Select | NP_001254479.2:p.Arg24056His | |
| NM_003319.4:c.44972G>A (TTN) | NP_003310.4:p.Arg14991His | |
| NM_133378.4:c.64463G>A (TTN) | NP_596869.4:p.Arg21488His | |
| NM_133432.3:c.45347G>A (TTN) | NP_597676.3:p.Arg15116His | |
| NM_133437.4:c.45548G>A (TTN) | NP_597681.4:p.Arg15183His | |
| NR_038271.1:n.596+2516C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8607C>T (TTN-AS1) | ||
| XM_011511729.1:c.71264G>A (TTN) | XP_011510031.1:p.Arg23755His | |
| XM_011511730.1:c.45158G>A (TTN) | XP_011510032.1:p.Arg15053His | |
| XM_011511731.1:c.45017G>A (TTN) | XP_011510033.1:p.Arg15006His | |
| XM_017004819.1:c.71060G>A (TTN) | XP_016860308.1:p.Arg23687His | |
| XM_017004820.1:c.66458G>A (TTN) | XP_016860309.1:p.Arg22153His | |
| XM_017004821.1:c.66455G>A (TTN) | XP_016860310.1:p.Arg22152His | |
| XM_017004822.1:c.63497G>A (TTN) | XP_016860311.1:p.Arg21166His | |
| XM_017004823.1:c.45113G>A (TTN) | XP_016860312.1:p.Arg15038His | |
| XM_024453094.1:c.66608G>A (TTN) | XP_024308862.1:p.Arg22203His | |
| XM_024453095.1:c.66605G>A (TTN) | XP_024308863.1:p.Arg22202His | |
| XM_024453096.1:c.66038G>A (TTN) | XP_024308864.1:p.Arg22013His | |
| XM_024453097.1:c.63380G>A (TTN) | XP_024308865.1:p.Arg21127His | |
| XM_024453098.1:c.63299G>A (TTN) | XP_024308866.1:p.Arg21100His | |
| XM_024453099.1:c.45062G>A (TTN) | XP_024308867.1:p.Arg15021His | |
| XM_024453100.1:c.34916G>A (TTN) | XP_024308868.1:p.Arg11639His |