Linked Data
ClinVar Variation Id:
499081
dbSNP Id:
rs375194057
ExAC:
2:179440116 G / A
gnomAD v2:
2-179440116-G-A
gnomAD v3:
2-178575389-G-A
gnomAD v4:
2-178575389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575389G>A , CM000664.2:g.178575389G>A | GRCh38 |
| NC_000002.11:g.179440116G>A , CM000664.1:g.179440116G>A | GRCh37 |
| NC_000002.10:g.179148362G>A | NCBI36 |
| NG_011618.3:g.260414C>T , LRG_391:g.260414C>T | |
| NG_051363.1:g.57563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63039C>T (TTN) | ENSP00000343764.6:p.His21013= | |
| ENST00000342175.11:c.44124C>T (TTN) | ENSP00000340554.6:p.His14708= | |
| ENST00000359218.10:c.43923C>T (TTN) | ENSP00000352154.5:p.His14641= | |
| ENST00000342175.10:c.44124C>T (TTN) | ENSP00000340554.6:p.His14708= | |
| ENST00000342992.10:c.63039C>T (TTN) | ENSP00000343764.6:p.His21013= | |
| ENST00000359218.9:c.43923C>T (TTN) | ENSP00000352154.5:p.His14641= | |
| ENST00000460472.6:c.43548C>T (TTN) | ENSP00000434586.1:p.His14516= | |
| ENST00000589042.5:c.70743C>T (TTN) MANE Select | ENSP00000467141.1:p.His23581= | |
| ENST00000591111.5:c.65820C>T (TTN) | ENSP00000465570.1:p.His21940= | |
| ENST00000615779.4:c.65820C>T (TTN) | ENSP00000483597.1:p.His21940= | |
| NM_001256850.1:c.65820C>T (TTN) | NP_001243779.1:p.His21940= | |
| NM_001267550.2:c.70743C>T (TTN) MANE Select | NP_001254479.2:p.His23581= | |
| NM_003319.4:c.43548C>T (TTN) | NP_003310.4:p.His14516= | |
| NM_133378.4:c.63039C>T (TTN) | NP_596869.4:p.His21013= | |
| NM_133432.3:c.43923C>T (TTN) | NP_597676.3:p.His14641= | |
| NM_133437.4:c.44124C>T (TTN) | NP_597681.4:p.His14708= | |
| NR_038271.1:n.596+3940G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7183G>A (TTN-AS1) | ||
| XM_011511729.1:c.69840C>T (TTN) | XP_011510031.1:p.His23280= | |
| XM_011511730.1:c.43734C>T (TTN) | XP_011510032.1:p.His14578= | |
| XM_011511731.1:c.43593C>T (TTN) | XP_011510033.1:p.His14531= | |
| XM_017004819.1:c.69636C>T (TTN) | XP_016860308.1:p.His23212= | |
| XM_017004820.1:c.65034C>T (TTN) | XP_016860309.1:p.His21678= | |
| XM_017004821.1:c.65031C>T (TTN) | XP_016860310.1:p.His21677= | |
| XM_017004822.1:c.62073C>T (TTN) | XP_016860311.1:p.His20691= | |
| XM_017004823.1:c.43689C>T (TTN) | XP_016860312.1:p.His14563= | |
| XM_024453094.1:c.65184C>T (TTN) | XP_024308862.1:p.His21728= | |
| XM_024453095.1:c.65181C>T (TTN) | XP_024308863.1:p.His21727= | |
| XM_024453096.1:c.64614C>T (TTN) | XP_024308864.1:p.His21538= | |
| XM_024453097.1:c.61956C>T (TTN) | XP_024308865.1:p.His20652= | |
| XM_024453098.1:c.61875C>T (TTN) | XP_024308866.1:p.His20625= | |
| XM_024453099.1:c.43638C>T (TTN) | XP_024308867.1:p.His14546= | |
| XM_024453100.1:c.33492C>T (TTN) | XP_024308868.1:p.His11164= |