Linked Data
ClinVar Variation Id:
404857
dbSNP Id:
rs373129706
ExAC:
2:179425387 C / T
gnomAD v2:
2-179425387-C-T
gnomAD v3:
2-178560660-C-T
gnomAD v4:
2-178560660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560660C>T , CM000664.2:g.178560660C>T | GRCh38 |
| NC_000002.11:g.179425387C>T , CM000664.1:g.179425387C>T | GRCh37 |
| NC_000002.10:g.179133633C>T | NCBI36 |
| NG_011618.3:g.275143G>A , LRG_391:g.275143G>A | |
| NG_051363.1:g.42834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77768G>A (TTN) | ENSP00000343764.6:p.Arg25923His | |
| ENST00000342175.11:c.58853G>A (TTN) | ENSP00000340554.6:p.Arg19618His | |
| ENST00000359218.10:c.58652G>A (TTN) | ENSP00000352154.5:p.Arg19551His | |
| ENST00000342175.10:c.58853G>A (TTN) | ENSP00000340554.6:p.Arg19618His | |
| ENST00000342992.10:c.77768G>A (TTN) | ENSP00000343764.6:p.Arg25923His | |
| ENST00000359218.9:c.58652G>A (TTN) | ENSP00000352154.5:p.Arg19551His | |
| ENST00000460472.6:c.58277G>A (TTN) | ENSP00000434586.1:p.Arg19426His | |
| ENST00000589042.5:c.85472G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28491His | |
| ENST00000591111.5:c.80549G>A (TTN) | ENSP00000465570.1:p.Arg26850His | |
| ENST00000615779.4:c.80549G>A (TTN) | ENSP00000483597.1:p.Arg26850His | |
| NM_001256850.1:c.80549G>A (TTN) | NP_001243779.1:p.Arg26850His | |
| NM_001267550.2:c.85472G>A (TTN) MANE Select | NP_001254479.2:p.Arg28491His | |
| NM_003319.4:c.58277G>A (TTN) | NP_003310.4:p.Arg19426His | |
| NM_133378.4:c.77768G>A (TTN) | NP_596869.4:p.Arg25923His | |
| NM_133432.3:c.58652G>A (TTN) | NP_597676.3:p.Arg19551His | |
| NM_133437.4:c.58853G>A (TTN) | NP_597681.4:p.Arg19618His | |
| NR_038271.1:n.447-10640C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18299C>T (TTN-AS1) | ||
| XM_011511729.1:c.84569G>A (TTN) | XP_011510031.1:p.Arg28190His | |
| XM_011511730.1:c.58463G>A (TTN) | XP_011510032.1:p.Arg19488His | |
| XM_011511731.1:c.58322G>A (TTN) | XP_011510033.1:p.Arg19441His | |
| XM_017004819.1:c.84365G>A (TTN) | XP_016860308.1:p.Arg28122His | |
| XM_017004820.1:c.79763G>A (TTN) | XP_016860309.1:p.Arg26588His | |
| XM_017004821.1:c.79760G>A (TTN) | XP_016860310.1:p.Arg26587His | |
| XM_017004822.1:c.76802G>A (TTN) | XP_016860311.1:p.Arg25601His | |
| XM_017004823.1:c.58418G>A (TTN) | XP_016860312.1:p.Arg19473His | |
| XM_024453094.1:c.79913G>A (TTN) | XP_024308862.1:p.Arg26638His | |
| XM_024453095.1:c.79910G>A (TTN) | XP_024308863.1:p.Arg26637His | |
| XM_024453096.1:c.79343G>A (TTN) | XP_024308864.1:p.Arg26448His | |
| XM_024453097.1:c.76685G>A (TTN) | XP_024308865.1:p.Arg25562His | |
| XM_024453098.1:c.76604G>A (TTN) | XP_024308866.1:p.Arg25535His | |
| XM_024453099.1:c.58367G>A (TTN) | XP_024308867.1:p.Arg19456His | |
| XM_024453100.1:c.48221G>A (TTN) | XP_024308868.1:p.Arg16074His |