Linked Data
ClinVar Variation Id:
228119
ClinVar RCV Id:
RCV000217874
RCV000459797
RCV001132658
RCV001132657
RCV001132659
RCV001131640
RCV001132660
RCV001171293
RCV001726051
RCV002453767
dbSNP Id:
rs566188777
ExAC:
2:179455228 C / T
gnomAD v2:
2-179455228-C-T
gnomAD v3:
2-178590501-C-T
gnomAD v4:
2-178590501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590501C>T , CM000664.2:g.178590501C>T | GRCh38 |
| NC_000002.11:g.179455228C>T , CM000664.1:g.179455228C>T | GRCh37 |
| NC_000002.10:g.179163474C>T | NCBI36 |
| NG_011618.3:g.245302G>A , LRG_391:g.245302G>A | |
| NG_051363.1:g.72675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53520G>A (TTN) | ENSP00000343764.6:p.Val17840= | |
| ENST00000342175.11:c.34605G>A (TTN) | ENSP00000340554.6:p.Val11535= | |
| ENST00000359218.10:c.34404G>A (TTN) | ENSP00000352154.5:p.Val11468= | |
| ENST00000342175.10:c.34605G>A (TTN) | ENSP00000340554.6:p.Val11535= | |
| ENST00000342992.10:c.53520G>A (TTN) | ENSP00000343764.6:p.Val17840= | |
| ENST00000359218.9:c.34404G>A (TTN) | ENSP00000352154.5:p.Val11468= | |
| ENST00000460472.6:c.34029G>A (TTN) | ENSP00000434586.1:p.Val11343= | |
| ENST00000589042.5:c.61224G>A (TTN) MANE Select | ENSP00000467141.1:p.Val20408= | |
| ENST00000591111.5:c.56301G>A (TTN) | ENSP00000465570.1:p.Val18767= | |
| ENST00000615779.4:c.56301G>A (TTN) | ENSP00000483597.1:p.Val18767= | |
| NM_001256850.1:c.56301G>A (TTN) | NP_001243779.1:p.Val18767= | |
| NM_001267550.2:c.61224G>A (TTN) MANE Select | NP_001254479.2:p.Val20408= | |
| NM_003319.4:c.34029G>A (TTN) | NP_003310.4:p.Val11343= | |
| NM_133378.4:c.53520G>A (TTN) | NP_596869.4:p.Val17840= | |
| NM_133432.3:c.34404G>A (TTN) | NP_597676.3:p.Val11468= | |
| NM_133437.4:c.34605G>A (TTN) | NP_597681.4:p.Val11535= | |
| NR_038271.1:n.597-7095C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-638C>T (TTN-AS1) | ||
| XM_011511729.1:c.60321G>A (TTN) | XP_011510031.1:p.Val20107= | |
| XM_011511730.1:c.34215G>A (TTN) | XP_011510032.1:p.Val11405= | |
| XM_011511731.1:c.34074G>A (TTN) | XP_011510033.1:p.Val11358= | |
| XM_017004819.1:c.60117G>A (TTN) | XP_016860308.1:p.Val20039= | |
| XM_017004820.1:c.55515G>A (TTN) | XP_016860309.1:p.Val18505= | |
| XM_017004821.1:c.55512G>A (TTN) | XP_016860310.1:p.Val18504= | |
| XM_017004822.1:c.52554G>A (TTN) | XP_016860311.1:p.Val17518= | |
| XM_017004823.1:c.34170G>A (TTN) | XP_016860312.1:p.Val11390= | |
| XM_024453094.1:c.55665G>A (TTN) | XP_024308862.1:p.Val18555= | |
| XM_024453095.1:c.55662G>A (TTN) | XP_024308863.1:p.Val18554= | |
| XM_024453096.1:c.55095G>A (TTN) | XP_024308864.1:p.Val18365= | |
| XM_024453097.1:c.52437G>A (TTN) | XP_024308865.1:p.Val17479= | |
| XM_024453098.1:c.52356G>A (TTN) | XP_024308866.1:p.Val17452= | |
| XM_024453099.1:c.34119G>A (TTN) | XP_024308867.1:p.Val11373= | |
| XM_024453100.1:c.23973G>A (TTN) | XP_024308868.1:p.Val7991= |