Linked Data
ClinVar Variation Id:
467328
dbSNP Id:
rs376465623
ExAC:
2:179457258 C / G
gnomAD v2:
2-179457258-C-G
gnomAD v3:
2-178592531-C-G
gnomAD v4:
2-178592531-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592531C>G , CM000664.2:g.178592531C>G | GRCh38 |
| NC_000002.11:g.179457258C>G , CM000664.1:g.179457258C>G | GRCh37 |
| NC_000002.10:g.179165504C>G | NCBI36 |
| NG_011618.3:g.243272G>C , LRG_391:g.243272G>C | |
| NG_051363.1:g.74705C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51770G>C (TTN) | ENSP00000343764.6:p.Arg17257Thr | |
| ENST00000342175.11:c.32855G>C (TTN) | ENSP00000340554.6:p.Arg10952Thr | |
| ENST00000359218.10:c.32654G>C (TTN) | ENSP00000352154.5:p.Arg10885Thr | |
| ENST00000342175.10:c.32855G>C (TTN) | ENSP00000340554.6:p.Arg10952Thr | |
| ENST00000342992.10:c.51770G>C (TTN) | ENSP00000343764.6:p.Arg17257Thr | |
| ENST00000359218.9:c.32654G>C (TTN) | ENSP00000352154.5:p.Arg10885Thr | |
| ENST00000460472.6:c.32279G>C (TTN) | ENSP00000434586.1:p.Arg10760Thr | |
| ENST00000589042.5:c.59474G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg19825Thr | |
| ENST00000591111.5:c.54551G>C (TTN) | ENSP00000465570.1:p.Arg18184Thr | |
| ENST00000615779.4:c.54551G>C (TTN) | ENSP00000483597.1:p.Arg18184Thr | |
| NM_001256850.1:c.54551G>C (TTN) | NP_001243779.1:p.Arg18184Thr | |
| NM_001267550.2:c.59474G>C (TTN) MANE Select | NP_001254479.2:p.Arg19825Thr | |
| NM_003319.4:c.32279G>C (TTN) | NP_003310.4:p.Arg10760Thr | |
| NM_133378.4:c.51770G>C (TTN) | NP_596869.4:p.Arg17257Thr | |
| NM_133432.3:c.32654G>C (TTN) | NP_597676.3:p.Arg10885Thr | |
| NM_133437.4:c.32855G>C (TTN) | NP_597681.4:p.Arg10952Thr | |
| NR_038271.1:n.597-5065C>G (TTN-AS1) | ||
| NR_038272.1:n.3364+1217C>G (TTN-AS1) | ||
| XM_011511729.1:c.58571G>C (TTN) | XP_011510031.1:p.Arg19524Thr | |
| XM_011511730.1:c.32465G>C (TTN) | XP_011510032.1:p.Arg10822Thr | |
| XM_011511731.1:c.32324G>C (TTN) | XP_011510033.1:p.Arg10775Thr | |
| XM_017004819.1:c.58367G>C (TTN) | XP_016860308.1:p.Arg19456Thr | |
| XM_017004820.1:c.53765G>C (TTN) | XP_016860309.1:p.Arg17922Thr | |
| XM_017004821.1:c.53762G>C (TTN) | XP_016860310.1:p.Arg17921Thr | |
| XM_017004822.1:c.50804G>C (TTN) | XP_016860311.1:p.Arg16935Thr | |
| XM_017004823.1:c.32420G>C (TTN) | XP_016860312.1:p.Arg10807Thr | |
| XM_024453094.1:c.53915G>C (TTN) | XP_024308862.1:p.Arg17972Thr | |
| XM_024453095.1:c.53912G>C (TTN) | XP_024308863.1:p.Arg17971Thr | |
| XM_024453096.1:c.53345G>C (TTN) | XP_024308864.1:p.Arg17782Thr | |
| XM_024453097.1:c.50687G>C (TTN) | XP_024308865.1:p.Arg16896Thr | |
| XM_024453098.1:c.50606G>C (TTN) | XP_024308866.1:p.Arg16869Thr | |
| XM_024453099.1:c.32369G>C (TTN) | XP_024308867.1:p.Arg10790Thr | |
| XM_024453100.1:c.22223G>C (TTN) | XP_024308868.1:p.Arg7408Thr |