Linked Data
ClinVar Variation Id:
332814
ClinVar RCV Id:
RCV000294612
RCV000344847
RCV000349206
RCV000390972
RCV000400717
RCV000827411
RCV001455451
RCV002338925
dbSNP Id:
rs374354363
ExAC:
2:179453779 A / G
gnomAD v2:
2-179453779-A-G
gnomAD v3:
2-178589052-A-G
gnomAD v4:
2-178589052-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589052A>G , CM000664.2:g.178589052A>G | GRCh38 |
| NC_000002.11:g.179453779A>G , CM000664.1:g.179453779A>G | GRCh37 |
| NC_000002.10:g.179162025A>G | NCBI36 |
| NG_011618.3:g.246751T>C , LRG_391:g.246751T>C | |
| NG_051363.1:g.71226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54969T>C (TTN) | ENSP00000343764.6:p.Asp18323= | |
| ENST00000342175.11:c.36054T>C (TTN) | ENSP00000340554.6:p.Asp12018= | |
| ENST00000359218.10:c.35853T>C (TTN) | ENSP00000352154.5:p.Asp11951= | |
| ENST00000342175.10:c.36054T>C (TTN) | ENSP00000340554.6:p.Asp12018= | |
| ENST00000342992.10:c.54969T>C (TTN) | ENSP00000343764.6:p.Asp18323= | |
| ENST00000359218.9:c.35853T>C (TTN) | ENSP00000352154.5:p.Asp11951= | |
| ENST00000460472.6:c.35478T>C (TTN) | ENSP00000434586.1:p.Asp11826= | |
| ENST00000589042.5:c.62673T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp20891= | |
| ENST00000591111.5:c.57750T>C (TTN) | ENSP00000465570.1:p.Asp19250= | |
| ENST00000615779.4:c.57750T>C (TTN) | ENSP00000483597.1:p.Asp19250= | |
| NM_001256850.1:c.57750T>C (TTN) | NP_001243779.1:p.Asp19250= | |
| NM_001267550.2:c.62673T>C (TTN) MANE Select | NP_001254479.2:p.Asp20891= | |
| NM_003319.4:c.35478T>C (TTN) | NP_003310.4:p.Asp11826= | |
| NM_133378.4:c.54969T>C (TTN) | NP_596869.4:p.Asp18323= | |
| NM_133432.3:c.35853T>C (TTN) | NP_597676.3:p.Asp11951= | |
| NM_133437.4:c.36054T>C (TTN) | NP_597681.4:p.Asp12018= | |
| NR_038271.1:n.597-8544A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-2087A>G (TTN-AS1) | ||
| XM_011511729.1:c.61770T>C (TTN) | XP_011510031.1:p.Asp20590= | |
| XM_011511730.1:c.35664T>C (TTN) | XP_011510032.1:p.Asp11888= | |
| XM_011511731.1:c.35523T>C (TTN) | XP_011510033.1:p.Asp11841= | |
| XM_017004819.1:c.61566T>C (TTN) | XP_016860308.1:p.Asp20522= | |
| XM_017004820.1:c.56964T>C (TTN) | XP_016860309.1:p.Asp18988= | |
| XM_017004821.1:c.56961T>C (TTN) | XP_016860310.1:p.Asp18987= | |
| XM_017004822.1:c.54003T>C (TTN) | XP_016860311.1:p.Asp18001= | |
| XM_017004823.1:c.35619T>C (TTN) | XP_016860312.1:p.Asp11873= | |
| XM_024453094.1:c.57114T>C (TTN) | XP_024308862.1:p.Asp19038= | |
| XM_024453095.1:c.57111T>C (TTN) | XP_024308863.1:p.Asp19037= | |
| XM_024453096.1:c.56544T>C (TTN) | XP_024308864.1:p.Asp18848= | |
| XM_024453097.1:c.53886T>C (TTN) | XP_024308865.1:p.Asp17962= | |
| XM_024453098.1:c.53805T>C (TTN) | XP_024308866.1:p.Asp17935= | |
| XM_024453099.1:c.35568T>C (TTN) | XP_024308867.1:p.Asp11856= | |
| XM_024453100.1:c.25422T>C (TTN) | XP_024308868.1:p.Asp8474= |