Linked Data
ClinVar Variation Id:
502584
dbSNP Id:
rs765216874
ExAC:
2:179473496 G / A
gnomAD v2:
2-179473496-G-A
gnomAD v3:
2-178608769-G-A
gnomAD v4:
2-178608769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608769G>A , CM000664.2:g.178608769G>A | GRCh38 |
| NC_000002.11:g.179473496G>A , CM000664.1:g.179473496G>A | GRCh37 |
| NC_000002.10:g.179181741G>A | NCBI36 |
| NG_011618.3:g.227034C>T , LRG_391:g.227034C>T | |
| NG_051363.1:g.90943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44538C>T (TTN) | ENSP00000343764.6:p.Pro14846= | |
| ENST00000342175.11:c.25623C>T (TTN) | ENSP00000340554.6:p.Pro8541= | |
| ENST00000359218.10:c.25422C>T (TTN) | ENSP00000352154.5:p.Pro8474= | |
| ENST00000342175.10:c.25623C>T (TTN) | ENSP00000340554.6:p.Pro8541= | |
| ENST00000342992.10:c.44538C>T (TTN) | ENSP00000343764.6:p.Pro14846= | |
| ENST00000359218.9:c.25422C>T (TTN) | ENSP00000352154.5:p.Pro8474= | |
| ENST00000460472.6:c.25047C>T (TTN) | ENSP00000434586.1:p.Pro8349= | |
| ENST00000589042.5:c.52242C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro17414= | |
| ENST00000591111.5:c.47319C>T (TTN) | ENSP00000465570.1:p.Pro15773= | |
| ENST00000615779.4:c.47319C>T (TTN) | ENSP00000483597.1:p.Pro15773= | |
| NM_001256850.1:c.47319C>T (TTN) | NP_001243779.1:p.Pro15773= | |
| NM_001267550.2:c.52242C>T (TTN) MANE Select | NP_001254479.2:p.Pro17414= | |
| NM_003319.4:c.25047C>T (TTN) | NP_003310.4:p.Pro8349= | |
| NM_133378.4:c.44538C>T (TTN) | NP_596869.4:p.Pro14846= | |
| NM_133432.3:c.25422C>T (TTN) | NP_597676.3:p.Pro8474= | |
| NM_133437.4:c.25623C>T (TTN) | NP_597681.4:p.Pro8541= | |
| NR_038271.1:n.782+503G>A (TTN-AS1) | ||
| XM_011511729.1:c.51339C>T (TTN) | XP_011510031.1:p.Pro17113= | |
| XM_011511730.1:c.25233C>T (TTN) | XP_011510032.1:p.Pro8411= | |
| XM_011511731.1:c.25092C>T (TTN) | XP_011510033.1:p.Pro8364= | |
| XM_017004819.1:c.51135C>T (TTN) | XP_016860308.1:p.Pro17045= | |
| XM_017004820.1:c.46533C>T (TTN) | XP_016860309.1:p.Pro15511= | |
| XM_017004821.1:c.46530C>T (TTN) | XP_016860310.1:p.Pro15510= | |
| XM_017004822.1:c.43572C>T (TTN) | XP_016860311.1:p.Pro14524= | |
| XM_017004823.1:c.25188C>T (TTN) | XP_016860312.1:p.Pro8396= | |
| XM_024453094.1:c.46683C>T (TTN) | XP_024308862.1:p.Pro15561= | |
| XM_024453095.1:c.46680C>T (TTN) | XP_024308863.1:p.Pro15560= | |
| XM_024453096.1:c.46113C>T (TTN) | XP_024308864.1:p.Pro15371= | |
| XM_024453097.1:c.43455C>T (TTN) | XP_024308865.1:p.Pro14485= | |
| XM_024453098.1:c.43374C>T (TTN) | XP_024308866.1:p.Pro14458= | |
| XM_024453099.1:c.25137C>T (TTN) | XP_024308867.1:p.Pro8379= | |
| XM_024453100.1:c.14991C>T (TTN) | XP_024308868.1:p.Pro4997= |