Linked Data
ClinVar Variation Id:
47447
dbSNP Id:
rs199859344
ExAC:
2:179425168 T / A
gnomAD v2:
2-179425168-T-A
gnomAD v3:
2-178560441-T-A
gnomAD v4:
2-178560441-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560441T>A , CM000664.2:g.178560441T>A | GRCh38 |
| NC_000002.11:g.179425168T>A , CM000664.1:g.179425168T>A | GRCh37 |
| NC_000002.10:g.179133414T>A | NCBI36 |
| NG_011618.3:g.275362A>T , LRG_391:g.275362A>T | |
| NG_051363.1:g.42615T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.77987A>T (TTN) | ENSP00000343764.6:p.Lys25996Ile | |
| ENST00000342175.11:c.59072A>T (TTN) | ENSP00000340554.6:p.Lys19691Ile | |
| ENST00000359218.10:c.58871A>T (TTN) | ENSP00000352154.5:p.Lys19624Ile | |
| ENST00000342175.10:c.59072A>T (TTN) | ENSP00000340554.6:p.Lys19691Ile | |
| ENST00000342992.10:c.77987A>T (TTN) | ENSP00000343764.6:p.Lys25996Ile | |
| ENST00000359218.9:c.58871A>T (TTN) | ENSP00000352154.5:p.Lys19624Ile | |
| ENST00000460472.6:c.58496A>T (TTN) | ENSP00000434586.1:p.Lys19499Ile | |
| ENST00000589042.5:c.85691A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys28564Ile | |
| ENST00000591111.5:c.80768A>T (TTN) | ENSP00000465570.1:p.Lys26923Ile | |
| ENST00000615779.4:c.80768A>T (TTN) | ENSP00000483597.1:p.Lys26923Ile | |
| NM_001256850.1:c.80768A>T (TTN) | NP_001243779.1:p.Lys26923Ile | |
| NM_001267550.2:c.85691A>T (TTN) MANE Select | NP_001254479.2:p.Lys28564Ile | |
| NM_003319.4:c.58496A>T (TTN) | NP_003310.4:p.Lys19499Ile | |
| NM_133378.4:c.77987A>T (TTN) | NP_596869.4:p.Lys25996Ile | |
| NM_133432.3:c.58871A>T (TTN) | NP_597676.3:p.Lys19624Ile | |
| NM_133437.4:c.59072A>T (TTN) | NP_597681.4:p.Lys19691Ile | |
| NR_038271.1:n.447-10859T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18080T>A (TTN-AS1) | ||
| XM_011511729.1:c.84788A>T (TTN) | XP_011510031.1:p.Lys28263Ile | |
| XM_011511730.1:c.58682A>T (TTN) | XP_011510032.1:p.Lys19561Ile | |
| XM_011511731.1:c.58541A>T (TTN) | XP_011510033.1:p.Lys19514Ile | |
| XM_017004819.1:c.84584A>T (TTN) | XP_016860308.1:p.Lys28195Ile | |
| XM_017004820.1:c.79982A>T (TTN) | XP_016860309.1:p.Lys26661Ile | |
| XM_017004821.1:c.79979A>T (TTN) | XP_016860310.1:p.Lys26660Ile | |
| XM_017004822.1:c.77021A>T (TTN) | XP_016860311.1:p.Lys25674Ile | |
| XM_017004823.1:c.58637A>T (TTN) | XP_016860312.1:p.Lys19546Ile | |
| XM_024453094.1:c.80132A>T (TTN) | XP_024308862.1:p.Lys26711Ile | |
| XM_024453095.1:c.80129A>T (TTN) | XP_024308863.1:p.Lys26710Ile | |
| XM_024453096.1:c.79562A>T (TTN) | XP_024308864.1:p.Lys26521Ile | |
| XM_024453097.1:c.76904A>T (TTN) | XP_024308865.1:p.Lys25635Ile | |
| XM_024453098.1:c.76823A>T (TTN) | XP_024308866.1:p.Lys25608Ile | |
| XM_024453099.1:c.58586A>T (TTN) | XP_024308867.1:p.Lys19529Ile | |
| XM_024453100.1:c.48440A>T (TTN) | XP_024308868.1:p.Lys16147Ile |