Linked Data
ClinVar Variation Id:
404760
dbSNP Id:
rs777176324
ExAC:
2:179451453 C / T
gnomAD v2:
2-179451453-C-T
gnomAD v3:
2-178586726-C-T
gnomAD v4:
2-178586726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586726C>T , CM000664.2:g.178586726C>T | GRCh38 |
| NC_000002.11:g.179451453C>T , CM000664.1:g.179451453C>T | GRCh37 |
| NC_000002.10:g.179159699C>T | NCBI36 |
| NG_011618.3:g.249077G>A , LRG_391:g.249077G>A | |
| NG_051363.1:g.68900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56471G>A (TTN) | ENSP00000343764.6:p.Arg18824His | |
| ENST00000342175.11:c.37556G>A (TTN) | ENSP00000340554.6:p.Arg12519His | |
| ENST00000359218.10:c.37355G>A (TTN) | ENSP00000352154.5:p.Arg12452His | |
| ENST00000342175.10:c.37556G>A (TTN) | ENSP00000340554.6:p.Arg12519His | |
| ENST00000342992.10:c.56471G>A (TTN) | ENSP00000343764.6:p.Arg18824His | |
| ENST00000359218.9:c.37355G>A (TTN) | ENSP00000352154.5:p.Arg12452His | |
| ENST00000460472.6:c.36980G>A (TTN) | ENSP00000434586.1:p.Arg12327His | |
| ENST00000589042.5:c.64175G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21392His | |
| ENST00000591111.5:c.59252G>A (TTN) | ENSP00000465570.1:p.Arg19751His | |
| ENST00000615779.4:c.59252G>A (TTN) | ENSP00000483597.1:p.Arg19751His | |
| NM_001256850.1:c.59252G>A (TTN) | NP_001243779.1:p.Arg19751His | |
| NM_001267550.2:c.64175G>A (TTN) MANE Select | NP_001254479.2:p.Arg21392His | |
| NM_003319.4:c.36980G>A (TTN) | NP_003310.4:p.Arg12327His | |
| NM_133378.4:c.56471G>A (TTN) | NP_596869.4:p.Arg18824His | |
| NM_133432.3:c.37355G>A (TTN) | NP_597676.3:p.Arg12452His | |
| NM_133437.4:c.37556G>A (TTN) | NP_597681.4:p.Arg12519His | |
| NR_038271.1:n.597-10870C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+1733C>T (TTN-AS1) | ||
| XM_011511729.1:c.63272G>A (TTN) | XP_011510031.1:p.Arg21091His | |
| XM_011511730.1:c.37166G>A (TTN) | XP_011510032.1:p.Arg12389His | |
| XM_011511731.1:c.37025G>A (TTN) | XP_011510033.1:p.Arg12342His | |
| XM_017004819.1:c.63068G>A (TTN) | XP_016860308.1:p.Arg21023His | |
| XM_017004820.1:c.58466G>A (TTN) | XP_016860309.1:p.Arg19489His | |
| XM_017004821.1:c.58463G>A (TTN) | XP_016860310.1:p.Arg19488His | |
| XM_017004822.1:c.55505G>A (TTN) | XP_016860311.1:p.Arg18502His | |
| XM_017004823.1:c.37121G>A (TTN) | XP_016860312.1:p.Arg12374His | |
| XM_024453094.1:c.58616G>A (TTN) | XP_024308862.1:p.Arg19539His | |
| XM_024453095.1:c.58613G>A (TTN) | XP_024308863.1:p.Arg19538His | |
| XM_024453096.1:c.58046G>A (TTN) | XP_024308864.1:p.Arg19349His | |
| XM_024453097.1:c.55388G>A (TTN) | XP_024308865.1:p.Arg18463His | |
| XM_024453098.1:c.55307G>A (TTN) | XP_024308866.1:p.Arg18436His | |
| XM_024453099.1:c.37070G>A (TTN) | XP_024308867.1:p.Arg12357His | |
| XM_024453100.1:c.26924G>A (TTN) | XP_024308868.1:p.Arg8975His |