Linked Data
ClinVar Variation Id:
332749
ClinVar RCV Id:
RCV000263391
RCV000267015
RCV000324512
RCV000354759
RCV000356251
RCV000613415
RCV001459608
RCV002348076
dbSNP Id:
rs756176112
ExAC:
2:179426454 A / G
gnomAD v2:
2-179426454-A-G
gnomAD v3:
2-178561727-A-G
gnomAD v4:
2-178561727-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561727A>G , CM000664.2:g.178561727A>G | GRCh38 |
| NC_000002.11:g.179426454A>G , CM000664.1:g.179426454A>G | GRCh37 |
| NC_000002.10:g.179134700A>G | NCBI36 |
| NG_011618.3:g.274076T>C , LRG_391:g.274076T>C | |
| NG_051363.1:g.43901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76701T>C (TTN) | ENSP00000343764.6:p.Tyr25567= | |
| ENST00000342175.11:c.57786T>C (TTN) | ENSP00000340554.6:p.Tyr19262= | |
| ENST00000359218.10:c.57585T>C (TTN) | ENSP00000352154.5:p.Tyr19195= | |
| ENST00000342175.10:c.57786T>C (TTN) | ENSP00000340554.6:p.Tyr19262= | |
| ENST00000342992.10:c.76701T>C (TTN) | ENSP00000343764.6:p.Tyr25567= | |
| ENST00000359218.9:c.57585T>C (TTN) | ENSP00000352154.5:p.Tyr19195= | |
| ENST00000460472.6:c.57210T>C (TTN) | ENSP00000434586.1:p.Tyr19070= | |
| ENST00000589042.5:c.84405T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr28135= | |
| ENST00000591111.5:c.79482T>C (TTN) | ENSP00000465570.1:p.Tyr26494= | |
| ENST00000615779.4:c.79482T>C (TTN) | ENSP00000483597.1:p.Tyr26494= | |
| NM_001256850.1:c.79482T>C (TTN) | NP_001243779.1:p.Tyr26494= | |
| NM_001267550.2:c.84405T>C (TTN) MANE Select | NP_001254479.2:p.Tyr28135= | |
| NM_003319.4:c.57210T>C (TTN) | NP_003310.4:p.Tyr19070= | |
| NM_133378.4:c.76701T>C (TTN) | NP_596869.4:p.Tyr25567= | |
| NM_133432.3:c.57585T>C (TTN) | NP_597676.3:p.Tyr19195= | |
| NM_133437.4:c.57786T>C (TTN) | NP_597681.4:p.Tyr19262= | |
| NR_038271.1:n.447-9573A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19366A>G (TTN-AS1) | ||
| XM_011511729.1:c.83502T>C (TTN) | XP_011510031.1:p.Tyr27834= | |
| XM_011511730.1:c.57396T>C (TTN) | XP_011510032.1:p.Tyr19132= | |
| XM_011511731.1:c.57255T>C (TTN) | XP_011510033.1:p.Tyr19085= | |
| XM_017004819.1:c.83298T>C (TTN) | XP_016860308.1:p.Tyr27766= | |
| XM_017004820.1:c.78696T>C (TTN) | XP_016860309.1:p.Tyr26232= | |
| XM_017004821.1:c.78693T>C (TTN) | XP_016860310.1:p.Tyr26231= | |
| XM_017004822.1:c.75735T>C (TTN) | XP_016860311.1:p.Tyr25245= | |
| XM_017004823.1:c.57351T>C (TTN) | XP_016860312.1:p.Tyr19117= | |
| XM_024453094.1:c.78846T>C (TTN) | XP_024308862.1:p.Tyr26282= | |
| XM_024453095.1:c.78843T>C (TTN) | XP_024308863.1:p.Tyr26281= | |
| XM_024453096.1:c.78276T>C (TTN) | XP_024308864.1:p.Tyr26092= | |
| XM_024453097.1:c.75618T>C (TTN) | XP_024308865.1:p.Tyr25206= | |
| XM_024453098.1:c.75537T>C (TTN) | XP_024308866.1:p.Tyr25179= | |
| XM_024453099.1:c.57300T>C (TTN) | XP_024308867.1:p.Tyr19100= | |
| XM_024453100.1:c.47154T>C (TTN) | XP_024308868.1:p.Tyr15718= |