Linked Data
ClinVar Variation Id:
47455
ClinVar RCV Id:
RCV000040724
RCV000724569
RCV001129501
RCV001129502
RCV001129503
RCV001129500
RCV001081370
RCV001129499
RCV002354209
RCV004541184
RCV001798187
dbSNP Id:
rs72648226
ExAC:
2:179424333 A / C
gnomAD v2:
2-179424333-A-C
gnomAD v3:
2-178559606-A-C
gnomAD v4:
2-178559606-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559606A>C , CM000664.2:g.178559606A>C | GRCh38 |
| NC_000002.11:g.179424333A>C , CM000664.1:g.179424333A>C | GRCh37 |
| NC_000002.10:g.179132579A>C | NCBI36 |
| NG_011618.3:g.276197T>G , LRG_391:g.276197T>G | |
| NG_051363.1:g.41780A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78822T>G (TTN) | ENSP00000343764.6:p.Val26274= | |
| ENST00000342175.11:c.59907T>G (TTN) | ENSP00000340554.6:p.Val19969= | |
| ENST00000359218.10:c.59706T>G (TTN) | ENSP00000352154.5:p.Val19902= | |
| ENST00000342175.10:c.59907T>G (TTN) | ENSP00000340554.6:p.Val19969= | |
| ENST00000342992.10:c.78822T>G (TTN) | ENSP00000343764.6:p.Val26274= | |
| ENST00000359218.9:c.59706T>G (TTN) | ENSP00000352154.5:p.Val19902= | |
| ENST00000460472.6:c.59331T>G (TTN) | ENSP00000434586.1:p.Val19777= | |
| ENST00000589042.5:c.86526T>G (TTN) MANE Select | ENSP00000467141.1:p.Val28842= | |
| ENST00000591111.5:c.81603T>G (TTN) | ENSP00000465570.1:p.Val27201= | |
| ENST00000615779.4:c.81603T>G (TTN) | ENSP00000483597.1:p.Val27201= | |
| NM_001256850.1:c.81603T>G (TTN) | NP_001243779.1:p.Val27201= | |
| NM_001267550.2:c.86526T>G (TTN) MANE Select | NP_001254479.2:p.Val28842= | |
| NM_003319.4:c.59331T>G (TTN) | NP_003310.4:p.Val19777= | |
| NM_133378.4:c.78822T>G (TTN) | NP_596869.4:p.Val26274= | |
| NM_133432.3:c.59706T>G (TTN) | NP_597676.3:p.Val19902= | |
| NM_133437.4:c.59907T>G (TTN) | NP_597681.4:p.Val19969= | |
| NR_038271.1:n.447-11694A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+17245A>C (TTN-AS1) | ||
| XM_011511729.1:c.85623T>G (TTN) | XP_011510031.1:p.Val28541= | |
| XM_011511730.1:c.59517T>G (TTN) | XP_011510032.1:p.Val19839= | |
| XM_011511731.1:c.59376T>G (TTN) | XP_011510033.1:p.Val19792= | |
| XM_017004819.1:c.85419T>G (TTN) | XP_016860308.1:p.Val28473= | |
| XM_017004820.1:c.80817T>G (TTN) | XP_016860309.1:p.Val26939= | |
| XM_017004821.1:c.80814T>G (TTN) | XP_016860310.1:p.Val26938= | |
| XM_017004822.1:c.77856T>G (TTN) | XP_016860311.1:p.Val25952= | |
| XM_017004823.1:c.59472T>G (TTN) | XP_016860312.1:p.Val19824= | |
| XM_024453094.1:c.80967T>G (TTN) | XP_024308862.1:p.Val26989= | |
| XM_024453095.1:c.80964T>G (TTN) | XP_024308863.1:p.Val26988= | |
| XM_024453096.1:c.80397T>G (TTN) | XP_024308864.1:p.Val26799= | |
| XM_024453097.1:c.77739T>G (TTN) | XP_024308865.1:p.Val25913= | |
| XM_024453098.1:c.77658T>G (TTN) | XP_024308866.1:p.Val25886= | |
| XM_024453099.1:c.59421T>G (TTN) | XP_024308867.1:p.Val19807= | |
| XM_024453100.1:c.49275T>G (TTN) | XP_024308868.1:p.Val16425= |