Linked Data
ClinVar Variation Id:
202708
ClinVar RCV Id:
RCV000184616
RCV000555766
RCV000764330
RCV001132953
RCV001132954
RCV001132012
RCV001132011
RCV001132013
RCV002453674
dbSNP Id:
rs201358641
ExAC:
2:179472256 A / G
gnomAD v2:
2-179472256-A-G
gnomAD v3:
2-178607529-A-G
gnomAD v4:
2-178607529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607529A>G , CM000664.2:g.178607529A>G | GRCh38 |
| NC_000002.11:g.179472256A>G , CM000664.1:g.179472256A>G | GRCh37 |
| NC_000002.10:g.179180501A>G | NCBI36 |
| NG_011618.3:g.228274T>C , LRG_391:g.228274T>C | |
| NG_051363.1:g.89703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45455T>C (TTN) | ENSP00000343764.6:p.Ile15152Thr | |
| ENST00000342175.11:c.26540T>C (TTN) | ENSP00000340554.6:p.Ile8847Thr | |
| ENST00000359218.10:c.26339T>C (TTN) | ENSP00000352154.5:p.Ile8780Thr | |
| ENST00000342175.10:c.26540T>C (TTN) | ENSP00000340554.6:p.Ile8847Thr | |
| ENST00000342992.10:c.45455T>C (TTN) | ENSP00000343764.6:p.Ile15152Thr | |
| ENST00000359218.9:c.26339T>C (TTN) | ENSP00000352154.5:p.Ile8780Thr | |
| ENST00000460472.6:c.25964T>C (TTN) | ENSP00000434586.1:p.Ile8655Thr | |
| ENST00000589042.5:c.53159T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile17720Thr | |
| ENST00000591111.5:c.48236T>C (TTN) | ENSP00000465570.1:p.Ile16079Thr | |
| ENST00000615779.4:c.48236T>C (TTN) | ENSP00000483597.1:p.Ile16079Thr | |
| NM_001256850.1:c.48236T>C (TTN) | NP_001243779.1:p.Ile16079Thr | |
| NM_001267550.2:c.53159T>C (TTN) MANE Select | NP_001254479.2:p.Ile17720Thr | |
| NM_003319.4:c.25964T>C (TTN) | NP_003310.4:p.Ile8655Thr | |
| NM_133378.4:c.45455T>C (TTN) | NP_596869.4:p.Ile15152Thr | |
| NM_133432.3:c.26339T>C (TTN) | NP_597676.3:p.Ile8780Thr | |
| NM_133437.4:c.26540T>C (TTN) | NP_597681.4:p.Ile8847Thr | |
| NR_038271.1:n.683-638A>G (TTN-AS1) | ||
| XM_011511729.1:c.52256T>C (TTN) | XP_011510031.1:p.Ile17419Thr | |
| XM_011511730.1:c.26150T>C (TTN) | XP_011510032.1:p.Ile8717Thr | |
| XM_011511731.1:c.26009T>C (TTN) | XP_011510033.1:p.Ile8670Thr | |
| XM_017004819.1:c.52052T>C (TTN) | XP_016860308.1:p.Ile17351Thr | |
| XM_017004820.1:c.47450T>C (TTN) | XP_016860309.1:p.Ile15817Thr | |
| XM_017004821.1:c.47447T>C (TTN) | XP_016860310.1:p.Ile15816Thr | |
| XM_017004822.1:c.44489T>C (TTN) | XP_016860311.1:p.Ile14830Thr | |
| XM_017004823.1:c.26105T>C (TTN) | XP_016860312.1:p.Ile8702Thr | |
| XM_024453094.1:c.47600T>C (TTN) | XP_024308862.1:p.Ile15867Thr | |
| XM_024453095.1:c.47597T>C (TTN) | XP_024308863.1:p.Ile15866Thr | |
| XM_024453096.1:c.47030T>C (TTN) | XP_024308864.1:p.Ile15677Thr | |
| XM_024453097.1:c.44372T>C (TTN) | XP_024308865.1:p.Ile14791Thr | |
| XM_024453098.1:c.44291T>C (TTN) | XP_024308866.1:p.Ile14764Thr | |
| XM_024453099.1:c.26054T>C (TTN) | XP_024308867.1:p.Ile8685Thr | |
| XM_024453100.1:c.15908T>C (TTN) | XP_024308868.1:p.Ile5303Thr |