Linked Data
ClinVar Variation Id:
286984
ClinVar RCV Id:
RCV000267874
RCV000266472
RCV000306527
RCV000303178
RCV000338409
RCV000360232
RCV000642963
RCV002411161
dbSNP Id:
rs373655492
ExAC:
2:179395585 C / T
gnomAD v2:
2-179395585-C-T
gnomAD v3:
2-178530858-C-T
gnomAD v4:
2-178530858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530858C>T , CM000664.2:g.178530858C>T | GRCh38 |
| NC_000002.11:g.179395585C>T , CM000664.1:g.179395585C>T | GRCh37 |
| NC_000002.10:g.179103831C>T | NCBI36 |
| NG_011618.3:g.304945G>A , LRG_391:g.304945G>A | |
| NG_051363.1:g.13032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98053G>A (TTN) | ENSP00000343764.6:p.Val32685Met | |
| ENST00000342175.11:c.79138G>A (TTN) | ENSP00000340554.6:p.Val26380Met | |
| ENST00000359218.10:c.78937G>A (TTN) | ENSP00000352154.5:p.Val26313Met | |
| ENST00000342175.10:c.79138G>A (TTN) | ENSP00000340554.6:p.Val26380Met | |
| ENST00000342992.10:c.98053G>A (TTN) | ENSP00000343764.6:p.Val32685Met | |
| ENST00000359218.9:c.78937G>A (TTN) | ENSP00000352154.5:p.Val26313Met | |
| ENST00000460472.6:c.78562G>A (TTN) | ENSP00000434586.1:p.Val26188Met | |
| ENST00000589042.5:c.105757G>A (TTN) MANE Select | ENSP00000467141.1:p.Val35253Met | |
| ENST00000591111.5:c.100834G>A (TTN) | ENSP00000465570.1:p.Val33612Met | |
| ENST00000615779.4:c.100834G>A (TTN) | ENSP00000483597.1:p.Val33612Met | |
| NM_001256850.1:c.100834G>A (TTN) | NP_001243779.1:p.Val33612Met | |
| NM_001267550.2:c.105757G>A (TTN) MANE Select | NP_001254479.2:p.Val35253Met | |
| NM_003319.4:c.78562G>A (TTN) | NP_003310.4:p.Val26188Met | |
| NM_133378.4:c.98053G>A (TTN) | NP_596869.4:p.Val32685Met | |
| NM_133432.3:c.78937G>A (TTN) | NP_597676.3:p.Val26313Met | |
| NM_133437.4:c.79138G>A (TTN) | NP_597681.4:p.Val26380Met | |
| NR_038271.1:n.446+7222C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4874C>T (TTN-AS1) | ||
| XM_011511729.1:c.104854G>A (TTN) | XP_011510031.1:p.Val34952Met | |
| XM_011511730.1:c.78748G>A (TTN) | XP_011510032.1:p.Val26250Met | |
| XM_011511731.1:c.78607G>A (TTN) | XP_011510033.1:p.Val26203Met | |
| XM_017004819.1:c.104650G>A (TTN) | XP_016860308.1:p.Val34884Met | |
| XM_017004820.1:c.100048G>A (TTN) | XP_016860309.1:p.Val33350Met | |
| XM_017004821.1:c.100045G>A (TTN) | XP_016860310.1:p.Val33349Met | |
| XM_017004822.1:c.97087G>A (TTN) | XP_016860311.1:p.Val32363Met | |
| XM_017004823.1:c.78703G>A (TTN) | XP_016860312.1:p.Val26235Met | |
| XM_024453094.1:c.100198G>A (TTN) | XP_024308862.1:p.Val33400Met | |
| XM_024453095.1:c.100195G>A (TTN) | XP_024308863.1:p.Val33399Met | |
| XM_024453096.1:c.99628G>A (TTN) | XP_024308864.1:p.Val33210Met | |
| XM_024453097.1:c.96970G>A (TTN) | XP_024308865.1:p.Val32324Met | |
| XM_024453098.1:c.96889G>A (TTN) | XP_024308866.1:p.Val32297Met | |
| XM_024453099.1:c.78652G>A (TTN) | XP_024308867.1:p.Val26218Met | |
| XM_024453100.1:c.68506G>A (TTN) | XP_024308868.1:p.Val22836Met |