Linked Data
ClinVar Variation Id:
196076
ClinVar RCV Id:
RCV000176810
RCV000290898
RCV000296778
RCV000345872
RCV000381555
RCV000385138
RCV000528103
RCV001311951
RCV002354452
dbSNP Id:
rs76928874
ExAC:
2:179424807 A / G
gnomAD v2:
2-179424807-A-G
gnomAD v3:
2-178560080-A-G
gnomAD v4:
2-178560080-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560080A>G , CM000664.2:g.178560080A>G | GRCh38 |
| NC_000002.11:g.179424807A>G , CM000664.1:g.179424807A>G | GRCh37 |
| NC_000002.10:g.179133053A>G | NCBI36 |
| NG_011618.3:g.275723T>C , LRG_391:g.275723T>C | |
| NG_051363.1:g.42254A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78348T>C (TTN) | ENSP00000343764.6:p.Thr26116= | |
| ENST00000342175.11:c.59433T>C (TTN) | ENSP00000340554.6:p.Thr19811= | |
| ENST00000359218.10:c.59232T>C (TTN) | ENSP00000352154.5:p.Thr19744= | |
| ENST00000342175.10:c.59433T>C (TTN) | ENSP00000340554.6:p.Thr19811= | |
| ENST00000342992.10:c.78348T>C (TTN) | ENSP00000343764.6:p.Thr26116= | |
| ENST00000359218.9:c.59232T>C (TTN) | ENSP00000352154.5:p.Thr19744= | |
| ENST00000460472.6:c.58857T>C (TTN) | ENSP00000434586.1:p.Thr19619= | |
| ENST00000589042.5:c.86052T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr28684= | |
| ENST00000591111.5:c.81129T>C (TTN) | ENSP00000465570.1:p.Thr27043= | |
| ENST00000615779.4:c.81129T>C (TTN) | ENSP00000483597.1:p.Thr27043= | |
| NM_001256850.1:c.81129T>C (TTN) | NP_001243779.1:p.Thr27043= | |
| NM_001267550.2:c.86052T>C (TTN) MANE Select | NP_001254479.2:p.Thr28684= | |
| NM_003319.4:c.58857T>C (TTN) | NP_003310.4:p.Thr19619= | |
| NM_133378.4:c.78348T>C (TTN) | NP_596869.4:p.Thr26116= | |
| NM_133432.3:c.59232T>C (TTN) | NP_597676.3:p.Thr19744= | |
| NM_133437.4:c.59433T>C (TTN) | NP_597681.4:p.Thr19811= | |
| NR_038271.1:n.447-11220A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+17719A>G (TTN-AS1) | ||
| XM_011511729.1:c.85149T>C (TTN) | XP_011510031.1:p.Thr28383= | |
| XM_011511730.1:c.59043T>C (TTN) | XP_011510032.1:p.Thr19681= | |
| XM_011511731.1:c.58902T>C (TTN) | XP_011510033.1:p.Thr19634= | |
| XM_017004819.1:c.84945T>C (TTN) | XP_016860308.1:p.Thr28315= | |
| XM_017004820.1:c.80343T>C (TTN) | XP_016860309.1:p.Thr26781= | |
| XM_017004821.1:c.80340T>C (TTN) | XP_016860310.1:p.Thr26780= | |
| XM_017004822.1:c.77382T>C (TTN) | XP_016860311.1:p.Thr25794= | |
| XM_017004823.1:c.58998T>C (TTN) | XP_016860312.1:p.Thr19666= | |
| XM_024453094.1:c.80493T>C (TTN) | XP_024308862.1:p.Thr26831= | |
| XM_024453095.1:c.80490T>C (TTN) | XP_024308863.1:p.Thr26830= | |
| XM_024453096.1:c.79923T>C (TTN) | XP_024308864.1:p.Thr26641= | |
| XM_024453097.1:c.77265T>C (TTN) | XP_024308865.1:p.Thr25755= | |
| XM_024453098.1:c.77184T>C (TTN) | XP_024308866.1:p.Thr25728= | |
| XM_024453099.1:c.58947T>C (TTN) | XP_024308867.1:p.Thr19649= | |
| XM_024453100.1:c.48801T>C (TTN) | XP_024308868.1:p.Thr16267= |