Linked Data
ClinVar Variation Id:
165972
dbSNP Id:
rs377512675
ExAC:
2:179467255 C / G
gnomAD v2:
2-179467255-C-G
gnomAD v3:
2-178602528-C-G
gnomAD v4:
2-178602528-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602528C>G , CM000664.2:g.178602528C>G | GRCh38 |
| NC_000002.11:g.179467255C>G , CM000664.1:g.179467255C>G | GRCh37 |
| NC_000002.10:g.179175500C>G | NCBI36 |
| NG_011618.3:g.233275G>C , LRG_391:g.233275G>C | |
| NG_051363.1:g.84702C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.47170G>C (TTN) | ENSP00000343764.6:p.Gly15724Arg | |
| ENST00000342175.11:c.28255G>C (TTN) | ENSP00000340554.6:p.Gly9419Arg | |
| ENST00000359218.10:c.28054G>C (TTN) | ENSP00000352154.5:p.Gly9352Arg | |
| ENST00000342175.10:c.28255G>C (TTN) | ENSP00000340554.6:p.Gly9419Arg | |
| ENST00000342992.10:c.47170G>C (TTN) | ENSP00000343764.6:p.Gly15724Arg | |
| ENST00000359218.9:c.28054G>C (TTN) | ENSP00000352154.5:p.Gly9352Arg | |
| ENST00000460472.6:c.27679G>C (TTN) | ENSP00000434586.1:p.Gly9227Arg | |
| ENST00000589042.5:c.54874G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly18292Arg | |
| ENST00000591111.5:c.49951G>C (TTN) | ENSP00000465570.1:p.Gly16651Arg | |
| ENST00000615779.4:c.49951G>C (TTN) | ENSP00000483597.1:p.Gly16651Arg | |
| NM_001256850.1:c.49951G>C (TTN) | NP_001243779.1:p.Gly16651Arg | |
| NM_001267550.2:c.54874G>C (TTN) MANE Select | NP_001254479.2:p.Gly18292Arg | |
| NM_003319.4:c.27679G>C (TTN) | NP_003310.4:p.Gly9227Arg | |
| NM_133378.4:c.47170G>C (TTN) | NP_596869.4:p.Gly15724Arg | |
| NM_133432.3:c.28054G>C (TTN) | NP_597676.3:p.Gly9352Arg | |
| NM_133437.4:c.28255G>C (TTN) | NP_597681.4:p.Gly9419Arg | |
| NR_038271.1:n.682+4847C>G (TTN-AS1) | ||
| NR_038272.1:n.3917+1861C>G (TTN-AS1) | ||
| XM_011511729.1:c.53971G>C (TTN) | XP_011510031.1:p.Gly17991Arg | |
| XM_011511730.1:c.27865G>C (TTN) | XP_011510032.1:p.Gly9289Arg | |
| XM_011511731.1:c.27724G>C (TTN) | XP_011510033.1:p.Gly9242Arg | |
| XM_017004819.1:c.53767G>C (TTN) | XP_016860308.1:p.Gly17923Arg | |
| XM_017004820.1:c.49165G>C (TTN) | XP_016860309.1:p.Gly16389Arg | |
| XM_017004821.1:c.49162G>C (TTN) | XP_016860310.1:p.Gly16388Arg | |
| XM_017004822.1:c.46204G>C (TTN) | XP_016860311.1:p.Gly15402Arg | |
| XM_017004823.1:c.27820G>C (TTN) | XP_016860312.1:p.Gly9274Arg | |
| XM_024453094.1:c.49315G>C (TTN) | XP_024308862.1:p.Gly16439Arg | |
| XM_024453095.1:c.49312G>C (TTN) | XP_024308863.1:p.Gly16438Arg | |
| XM_024453096.1:c.48745G>C (TTN) | XP_024308864.1:p.Gly16249Arg | |
| XM_024453097.1:c.46087G>C (TTN) | XP_024308865.1:p.Gly15363Arg | |
| XM_024453098.1:c.46006G>C (TTN) | XP_024308866.1:p.Gly15336Arg | |
| XM_024453099.1:c.27769G>C (TTN) | XP_024308867.1:p.Gly9257Arg | |
| XM_024453100.1:c.17623G>C (TTN) | XP_024308868.1:p.Gly5875Arg |