Linked Data
ClinVar Variation Id:
229502
dbSNP Id:
rs200717463
ExAC:
2:179442330 G / A
gnomAD v2:
2-179442330-G-A
gnomAD v3:
2-178577603-G-A
gnomAD v4:
2-178577603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577603G>A , CM000664.2:g.178577603G>A | GRCh38 |
| NC_000002.11:g.179442330G>A , CM000664.1:g.179442330G>A | GRCh37 |
| NC_000002.10:g.179150576G>A | NCBI36 |
| NG_011618.3:g.258200C>T , LRG_391:g.258200C>T | |
| NG_051363.1:g.59777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61119C>T (TTN) | ENSP00000343764.6:p.Tyr20373= | |
| ENST00000342175.11:c.42204C>T (TTN) | ENSP00000340554.6:p.Tyr14068= | |
| ENST00000359218.10:c.42003C>T (TTN) | ENSP00000352154.5:p.Tyr14001= | |
| ENST00000342175.10:c.42204C>T (TTN) | ENSP00000340554.6:p.Tyr14068= | |
| ENST00000342992.10:c.61119C>T (TTN) | ENSP00000343764.6:p.Tyr20373= | |
| ENST00000359218.9:c.42003C>T (TTN) | ENSP00000352154.5:p.Tyr14001= | |
| ENST00000460472.6:c.41628C>T (TTN) | ENSP00000434586.1:p.Tyr13876= | |
| ENST00000589042.5:c.68823C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr22941= | |
| ENST00000591111.5:c.63900C>T (TTN) | ENSP00000465570.1:p.Tyr21300= | |
| ENST00000615779.4:c.63900C>T (TTN) | ENSP00000483597.1:p.Tyr21300= | |
| NM_001256850.1:c.63900C>T (TTN) | NP_001243779.1:p.Tyr21300= | |
| NM_001267550.2:c.68823C>T (TTN) MANE Select | NP_001254479.2:p.Tyr22941= | |
| NM_003319.4:c.41628C>T (TTN) | NP_003310.4:p.Tyr13876= | |
| NM_133378.4:c.61119C>T (TTN) | NP_596869.4:p.Tyr20373= | |
| NM_133432.3:c.42003C>T (TTN) | NP_597676.3:p.Tyr14001= | |
| NM_133437.4:c.42204C>T (TTN) | NP_597681.4:p.Tyr14068= | |
| NR_038271.1:n.596+6154G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4969G>A (TTN-AS1) | ||
| XM_011511729.1:c.67920C>T (TTN) | XP_011510031.1:p.Tyr22640= | |
| XM_011511730.1:c.41814C>T (TTN) | XP_011510032.1:p.Tyr13938= | |
| XM_011511731.1:c.41673C>T (TTN) | XP_011510033.1:p.Tyr13891= | |
| XM_017004819.1:c.67716C>T (TTN) | XP_016860308.1:p.Tyr22572= | |
| XM_017004820.1:c.63114C>T (TTN) | XP_016860309.1:p.Tyr21038= | |
| XM_017004821.1:c.63111C>T (TTN) | XP_016860310.1:p.Tyr21037= | |
| XM_017004822.1:c.60153C>T (TTN) | XP_016860311.1:p.Tyr20051= | |
| XM_017004823.1:c.41769C>T (TTN) | XP_016860312.1:p.Tyr13923= | |
| XM_024453094.1:c.63264C>T (TTN) | XP_024308862.1:p.Tyr21088= | |
| XM_024453095.1:c.63261C>T (TTN) | XP_024308863.1:p.Tyr21087= | |
| XM_024453096.1:c.62694C>T (TTN) | XP_024308864.1:p.Tyr20898= | |
| XM_024453097.1:c.60036C>T (TTN) | XP_024308865.1:p.Tyr20012= | |
| XM_024453098.1:c.59955C>T (TTN) | XP_024308866.1:p.Tyr19985= | |
| XM_024453099.1:c.41718C>T (TTN) | XP_024308867.1:p.Tyr13906= | |
| XM_024453100.1:c.31572C>T (TTN) | XP_024308868.1:p.Tyr10524= |