Linked Data
ClinVar Variation Id:
191835
dbSNP Id:
rs186405108
ExAC:
2:179403769 C / G
gnomAD v2:
2-179403769-C-G
gnomAD v3:
2-178539042-C-G
gnomAD v4:
2-178539042-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539042C>G , CM000664.2:g.178539042C>G | GRCh38 |
| NC_000002.11:g.179403769C>G , CM000664.1:g.179403769C>G | GRCh37 |
| NC_000002.10:g.179112015C>G | NCBI36 |
| NG_011618.3:g.296761G>C , LRG_391:g.296761G>C | |
| NG_051363.1:g.21216C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91189G>C (TTN) | ENSP00000343764.6:p.Asp30397His | |
| ENST00000342175.11:c.72274G>C (TTN) | ENSP00000340554.6:p.Asp24092His | |
| ENST00000359218.10:c.72073G>C (TTN) | ENSP00000352154.5:p.Asp24025His | |
| ENST00000342175.10:c.72274G>C (TTN) | ENSP00000340554.6:p.Asp24092His | |
| ENST00000342992.10:c.91189G>C (TTN) | ENSP00000343764.6:p.Asp30397His | |
| ENST00000359218.9:c.72073G>C (TTN) | ENSP00000352154.5:p.Asp24025His | |
| ENST00000460472.6:c.71698G>C (TTN) | ENSP00000434586.1:p.Asp23900His | |
| ENST00000589042.5:c.98893G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp32965His | |
| ENST00000591111.5:c.93970G>C (TTN) | ENSP00000465570.1:p.Asp31324His | |
| ENST00000615779.4:c.93970G>C (TTN) | ENSP00000483597.1:p.Asp31324His | |
| NM_001256850.1:c.93970G>C (TTN) | NP_001243779.1:p.Asp31324His | |
| NM_001267550.2:c.98893G>C (TTN) MANE Select | NP_001254479.2:p.Asp32965His | |
| NM_003319.4:c.71698G>C (TTN) | NP_003310.4:p.Asp23900His | |
| NM_133378.4:c.91189G>C (TTN) | NP_596869.4:p.Asp30397His | |
| NM_133432.3:c.72073G>C (TTN) | NP_597676.3:p.Asp24025His | |
| NM_133437.4:c.72274G>C (TTN) | NP_597681.4:p.Asp24092His | |
| NR_038271.1:n.446+15406C>G (TTN-AS1) | ||
| NR_038272.1:n.992C>G (TTN-AS1) | ||
| XM_011511729.1:c.97990G>C (TTN) | XP_011510031.1:p.Asp32664His | |
| XM_011511730.1:c.71884G>C (TTN) | XP_011510032.1:p.Asp23962His | |
| XM_011511731.1:c.71743G>C (TTN) | XP_011510033.1:p.Asp23915His | |
| XM_017004819.1:c.97786G>C (TTN) | XP_016860308.1:p.Asp32596His | |
| XM_017004820.1:c.93184G>C (TTN) | XP_016860309.1:p.Asp31062His | |
| XM_017004821.1:c.93181G>C (TTN) | XP_016860310.1:p.Asp31061His | |
| XM_017004822.1:c.90223G>C (TTN) | XP_016860311.1:p.Asp30075His | |
| XM_017004823.1:c.71839G>C (TTN) | XP_016860312.1:p.Asp23947His | |
| XM_024453094.1:c.93334G>C (TTN) | XP_024308862.1:p.Asp31112His | |
| XM_024453095.1:c.93331G>C (TTN) | XP_024308863.1:p.Asp31111His | |
| XM_024453096.1:c.92764G>C (TTN) | XP_024308864.1:p.Asp30922His | |
| XM_024453097.1:c.90106G>C (TTN) | XP_024308865.1:p.Asp30036His | |
| XM_024453098.1:c.90025G>C (TTN) | XP_024308866.1:p.Asp30009His | |
| XM_024453099.1:c.71788G>C (TTN) | XP_024308867.1:p.Asp23930His | |
| XM_024453100.1:c.61642G>C (TTN) | XP_024308868.1:p.Asp20548His |