Linked Data
ClinVar Variation Id:
518940
dbSNP Id:
rs543275318
ExAC:
2:179437076 C / T
gnomAD v2:
2-179437076-C-T
gnomAD v3:
2-178572349-C-T
gnomAD v4:
2-178572349-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572349C>T , CM000664.2:g.178572349C>T | GRCh38 |
| NC_000002.11:g.179437076C>T , CM000664.1:g.179437076C>T | GRCh37 |
| NC_000002.10:g.179145322C>T | NCBI36 |
| NG_011618.3:g.263454G>A , LRG_391:g.263454G>A | |
| NG_051363.1:g.54523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66079G>A (TTN) | ENSP00000343764.6:p.Ala22027Thr | |
| ENST00000342175.11:c.47164G>A (TTN) | ENSP00000340554.6:p.Ala15722Thr | |
| ENST00000359218.10:c.46963G>A (TTN) | ENSP00000352154.5:p.Ala15655Thr | |
| ENST00000342175.10:c.47164G>A (TTN) | ENSP00000340554.6:p.Ala15722Thr | |
| ENST00000342992.10:c.66079G>A (TTN) | ENSP00000343764.6:p.Ala22027Thr | |
| ENST00000359218.9:c.46963G>A (TTN) | ENSP00000352154.5:p.Ala15655Thr | |
| ENST00000460472.6:c.46588G>A (TTN) | ENSP00000434586.1:p.Ala15530Thr | |
| ENST00000589042.5:c.73783G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala24595Thr | |
| ENST00000591111.5:c.68860G>A (TTN) | ENSP00000465570.1:p.Ala22954Thr | |
| ENST00000615779.4:c.68860G>A (TTN) | ENSP00000483597.1:p.Ala22954Thr | |
| NM_001256850.1:c.68860G>A (TTN) | NP_001243779.1:p.Ala22954Thr | |
| NM_001267550.2:c.73783G>A (TTN) MANE Select | NP_001254479.2:p.Ala24595Thr | |
| NM_003319.4:c.46588G>A (TTN) | NP_003310.4:p.Ala15530Thr | |
| NM_133378.4:c.66079G>A (TTN) | NP_596869.4:p.Ala22027Thr | |
| NM_133432.3:c.46963G>A (TTN) | NP_597676.3:p.Ala15655Thr | |
| NM_133437.4:c.47164G>A (TTN) | NP_597681.4:p.Ala15722Thr | |
| NR_038271.1:n.596+900C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10223C>T (TTN-AS1) | ||
| XM_011511729.1:c.72880G>A (TTN) | XP_011510031.1:p.Ala24294Thr | |
| XM_011511730.1:c.46774G>A (TTN) | XP_011510032.1:p.Ala15592Thr | |
| XM_011511731.1:c.46633G>A (TTN) | XP_011510033.1:p.Ala15545Thr | |
| XM_017004819.1:c.72676G>A (TTN) | XP_016860308.1:p.Ala24226Thr | |
| XM_017004820.1:c.68074G>A (TTN) | XP_016860309.1:p.Ala22692Thr | |
| XM_017004821.1:c.68071G>A (TTN) | XP_016860310.1:p.Ala22691Thr | |
| XM_017004822.1:c.65113G>A (TTN) | XP_016860311.1:p.Ala21705Thr | |
| XM_017004823.1:c.46729G>A (TTN) | XP_016860312.1:p.Ala15577Thr | |
| XM_024453094.1:c.68224G>A (TTN) | XP_024308862.1:p.Ala22742Thr | |
| XM_024453095.1:c.68221G>A (TTN) | XP_024308863.1:p.Ala22741Thr | |
| XM_024453096.1:c.67654G>A (TTN) | XP_024308864.1:p.Ala22552Thr | |
| XM_024453097.1:c.64996G>A (TTN) | XP_024308865.1:p.Ala21666Thr | |
| XM_024453098.1:c.64915G>A (TTN) | XP_024308866.1:p.Ala21639Thr | |
| XM_024453099.1:c.46678G>A (TTN) | XP_024308867.1:p.Ala15560Thr | |
| XM_024453100.1:c.36532G>A (TTN) | XP_024308868.1:p.Ala12178Thr |