Linked Data
ClinVar Variation Id:
47717
ClinVar RCV Id:
RCV000040986
RCV000620414
RCV000726670
RCV000538774
RCV001131607
RCV001131608
RCV001131609
RCV001131610
RCV001131606
RCV001171217
dbSNP Id:
rs200497615
ExAC:
2:179393523 C / T
gnomAD v2:
2-179393523-C-T
gnomAD v3:
2-178528796-C-T
gnomAD v4:
2-178528796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528796C>T , CM000664.2:g.178528796C>T | GRCh38 |
| NC_000002.11:g.179393523C>T , CM000664.1:g.179393523C>T | GRCh37 |
| NC_000002.10:g.179101769C>T | NCBI36 |
| NG_011618.3:g.307007G>A , LRG_391:g.307007G>A | |
| NG_051363.1:g.10970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99251G>A (TTN) | ENSP00000343764.6:p.Arg33084Gln | |
| ENST00000342175.11:c.80336G>A (TTN) | ENSP00000340554.6:p.Arg26779Gln | |
| ENST00000359218.10:c.80135G>A (TTN) | ENSP00000352154.5:p.Arg26712Gln | |
| ENST00000342175.10:c.80336G>A (TTN) | ENSP00000340554.6:p.Arg26779Gln | |
| ENST00000342992.10:c.99251G>A (TTN) | ENSP00000343764.6:p.Arg33084Gln | |
| ENST00000359218.9:c.80135G>A (TTN) | ENSP00000352154.5:p.Arg26712Gln | |
| ENST00000460472.6:c.79760G>A (TTN) | ENSP00000434586.1:p.Arg26587Gln | |
| ENST00000589042.5:c.106955G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35652Gln | |
| ENST00000591111.5:c.102032G>A (TTN) | ENSP00000465570.1:p.Arg34011Gln | |
| ENST00000615779.4:c.102032G>A (TTN) | ENSP00000483597.1:p.Arg34011Gln | |
| NM_001256850.1:c.102032G>A (TTN) | NP_001243779.1:p.Arg34011Gln | |
| NM_001267550.2:c.106955G>A (TTN) MANE Select | NP_001254479.2:p.Arg35652Gln | |
| NM_003319.4:c.79760G>A (TTN) | NP_003310.4:p.Arg26587Gln | |
| NM_133378.4:c.99251G>A (TTN) | NP_596869.4:p.Arg33084Gln | |
| NM_133432.3:c.80135G>A (TTN) | NP_597676.3:p.Arg26712Gln | |
| NM_133437.4:c.80336G>A (TTN) | NP_597681.4:p.Arg26779Gln | |
| NR_038271.1:n.446+5160C>T (TTN-AS1) | ||
| NR_038272.1:n.219+5160C>T (TTN-AS1) | ||
| XM_011511729.1:c.106052G>A (TTN) | XP_011510031.1:p.Arg35351Gln | |
| XM_011511730.1:c.79946G>A (TTN) | XP_011510032.1:p.Arg26649Gln | |
| XM_011511731.1:c.79805G>A (TTN) | XP_011510033.1:p.Arg26602Gln | |
| XM_017004819.1:c.105848G>A (TTN) | XP_016860308.1:p.Arg35283Gln | |
| XM_017004820.1:c.101246G>A (TTN) | XP_016860309.1:p.Arg33749Gln | |
| XM_017004821.1:c.101243G>A (TTN) | XP_016860310.1:p.Arg33748Gln | |
| XM_017004822.1:c.98285G>A (TTN) | XP_016860311.1:p.Arg32762Gln | |
| XM_017004823.1:c.79901G>A (TTN) | XP_016860312.1:p.Arg26634Gln | |
| XM_024453094.1:c.101396G>A (TTN) | XP_024308862.1:p.Arg33799Gln | |
| XM_024453095.1:c.101393G>A (TTN) | XP_024308863.1:p.Arg33798Gln | |
| XM_024453096.1:c.100826G>A (TTN) | XP_024308864.1:p.Arg33609Gln | |
| XM_024453097.1:c.98168G>A (TTN) | XP_024308865.1:p.Arg32723Gln | |
| XM_024453098.1:c.98087G>A (TTN) | XP_024308866.1:p.Arg32696Gln | |
| XM_024453099.1:c.79850G>A (TTN) | XP_024308867.1:p.Arg26617Gln | |
| XM_024453100.1:c.69704G>A (TTN) | XP_024308868.1:p.Arg23235Gln |