Linked Data
ClinVar Variation Id:
47549
dbSNP Id:
rs376403373
ExAC:
2:179410975 C / T
gnomAD v2:
2-179410975-C-T
gnomAD v3:
2-178546248-C-T
gnomAD v4:
2-178546248-C-T
PubMed:
PMID:23418287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546248C>T , CM000664.2:g.178546248C>T | GRCh38 |
| NC_000002.11:g.179410975C>T , CM000664.1:g.179410975C>T | GRCh37 |
| NC_000002.10:g.179119221C>T | NCBI36 |
| NG_011618.3:g.289555G>A , LRG_391:g.289555G>A | |
| NG_051363.1:g.28422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87379G>A (TTN) | ENSP00000343764.6:p.Gly29127Arg | |
| ENST00000342175.11:c.68464G>A (TTN) | ENSP00000340554.6:p.Gly22822Arg | |
| ENST00000359218.10:c.68263G>A (TTN) | ENSP00000352154.5:p.Gly22755Arg | |
| ENST00000342175.10:c.68464G>A (TTN) | ENSP00000340554.6:p.Gly22822Arg | |
| ENST00000342992.10:c.87379G>A (TTN) | ENSP00000343764.6:p.Gly29127Arg | |
| ENST00000359218.9:c.68263G>A (TTN) | ENSP00000352154.5:p.Gly22755Arg | |
| ENST00000460472.6:c.67888G>A (TTN) | ENSP00000434586.1:p.Gly22630Arg | |
| ENST00000589042.5:c.95083G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly31695Arg | |
| ENST00000591111.5:c.90160G>A (TTN) | ENSP00000465570.1:p.Gly30054Arg | |
| ENST00000615779.4:c.90160G>A (TTN) | ENSP00000483597.1:p.Gly30054Arg | |
| NM_001256850.1:c.90160G>A (TTN) | NP_001243779.1:p.Gly30054Arg | |
| NM_001267550.2:c.95083G>A (TTN) MANE Select | NP_001254479.2:p.Gly31695Arg | |
| NM_003319.4:c.67888G>A (TTN) | NP_003310.4:p.Gly22630Arg | |
| NM_133378.4:c.87379G>A (TTN) | NP_596869.4:p.Gly29127Arg | |
| NM_133432.3:c.68263G>A (TTN) | NP_597676.3:p.Gly22755Arg | |
| NM_133437.4:c.68464G>A (TTN) | NP_597681.4:p.Gly22822Arg | |
| NR_038271.1:n.446+22612C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3887C>T (TTN-AS1) | ||
| XM_011511729.1:c.94180G>A (TTN) | XP_011510031.1:p.Gly31394Arg | |
| XM_011511730.1:c.68074G>A (TTN) | XP_011510032.1:p.Gly22692Arg | |
| XM_011511731.1:c.67933G>A (TTN) | XP_011510033.1:p.Gly22645Arg | |
| XM_017004819.1:c.93976G>A (TTN) | XP_016860308.1:p.Gly31326Arg | |
| XM_017004820.1:c.89374G>A (TTN) | XP_016860309.1:p.Gly29792Arg | |
| XM_017004821.1:c.89371G>A (TTN) | XP_016860310.1:p.Gly29791Arg | |
| XM_017004822.1:c.86413G>A (TTN) | XP_016860311.1:p.Gly28805Arg | |
| XM_017004823.1:c.68029G>A (TTN) | XP_016860312.1:p.Gly22677Arg | |
| XM_024453094.1:c.89524G>A (TTN) | XP_024308862.1:p.Gly29842Arg | |
| XM_024453095.1:c.89521G>A (TTN) | XP_024308863.1:p.Gly29841Arg | |
| XM_024453096.1:c.88954G>A (TTN) | XP_024308864.1:p.Gly29652Arg | |
| XM_024453097.1:c.86296G>A (TTN) | XP_024308865.1:p.Gly28766Arg | |
| XM_024453098.1:c.86215G>A (TTN) | XP_024308866.1:p.Gly28739Arg | |
| XM_024453099.1:c.67978G>A (TTN) | XP_024308867.1:p.Gly22660Arg | |
| XM_024453100.1:c.57832G>A (TTN) | XP_024308868.1:p.Gly19278Arg |