Linked Data
ClinVar Variation Id:
228132
dbSNP Id:
rs371678190
ExAC:
2:179442793 G / T
gnomAD v2:
2-179442793-G-T
gnomAD v3:
2-178578066-G-T
gnomAD v4:
2-178578066-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578066G>T , CM000664.2:g.178578066G>T | GRCh38 |
| NC_000002.11:g.179442793G>T , CM000664.1:g.179442793G>T | GRCh37 |
| NC_000002.10:g.179151039G>T | NCBI36 |
| NG_011618.3:g.257737C>A , LRG_391:g.257737C>A | |
| NG_051363.1:g.60240G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60745C>A (TTN) | ENSP00000343764.6:p.Arg20249= | |
| ENST00000342175.11:c.41830C>A (TTN) | ENSP00000340554.6:p.Arg13944= | |
| ENST00000359218.10:c.41629C>A (TTN) | ENSP00000352154.5:p.Arg13877= | |
| ENST00000342175.10:c.41830C>A (TTN) | ENSP00000340554.6:p.Arg13944= | |
| ENST00000342992.10:c.60745C>A (TTN) | ENSP00000343764.6:p.Arg20249= | |
| ENST00000359218.9:c.41629C>A (TTN) | ENSP00000352154.5:p.Arg13877= | |
| ENST00000460472.6:c.41254C>A (TTN) | ENSP00000434586.1:p.Arg13752= | |
| ENST00000589042.5:c.68449C>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22817= | |
| ENST00000591111.5:c.63526C>A (TTN) | ENSP00000465570.1:p.Arg21176= | |
| ENST00000615779.4:c.63526C>A (TTN) | ENSP00000483597.1:p.Arg21176= | |
| NM_001256850.1:c.63526C>A (TTN) | NP_001243779.1:p.Arg21176= | |
| NM_001267550.2:c.68449C>A (TTN) MANE Select | NP_001254479.2:p.Arg22817= | |
| NM_003319.4:c.41254C>A (TTN) | NP_003310.4:p.Arg13752= | |
| NM_133378.4:c.60745C>A (TTN) | NP_596869.4:p.Arg20249= | |
| NM_133432.3:c.41629C>A (TTN) | NP_597676.3:p.Arg13877= | |
| NM_133437.4:c.41830C>A (TTN) | NP_597681.4:p.Arg13944= | |
| NR_038271.1:n.596+6617G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4506G>T (TTN-AS1) | ||
| XM_011511729.1:c.67546C>A (TTN) | XP_011510031.1:p.Arg22516= | |
| XM_011511730.1:c.41440C>A (TTN) | XP_011510032.1:p.Arg13814= | |
| XM_011511731.1:c.41299C>A (TTN) | XP_011510033.1:p.Arg13767= | |
| XM_017004819.1:c.67342C>A (TTN) | XP_016860308.1:p.Arg22448= | |
| XM_017004820.1:c.62740C>A (TTN) | XP_016860309.1:p.Arg20914= | |
| XM_017004821.1:c.62737C>A (TTN) | XP_016860310.1:p.Arg20913= | |
| XM_017004822.1:c.59779C>A (TTN) | XP_016860311.1:p.Arg19927= | |
| XM_017004823.1:c.41395C>A (TTN) | XP_016860312.1:p.Arg13799= | |
| XM_024453094.1:c.62890C>A (TTN) | XP_024308862.1:p.Arg20964= | |
| XM_024453095.1:c.62887C>A (TTN) | XP_024308863.1:p.Arg20963= | |
| XM_024453096.1:c.62320C>A (TTN) | XP_024308864.1:p.Arg20774= | |
| XM_024453097.1:c.59662C>A (TTN) | XP_024308865.1:p.Arg19888= | |
| XM_024453098.1:c.59581C>A (TTN) | XP_024308866.1:p.Arg19861= | |
| XM_024453099.1:c.41344C>A (TTN) | XP_024308867.1:p.Arg13782= | |
| XM_024453100.1:c.31198C>A (TTN) | XP_024308868.1:p.Arg10400= |