Linked Data
ClinVar Variation Id:
202718
ClinVar RCV Id:
RCV000286006
RCV000228857
RCV000342179
RCV000307291
RCV000347210
RCV000287146
RCV000395829
RCV000725529
RCV000768991
RCV001262868
RCV002433826
dbSNP Id:
rs199837769
ExAC:
2:179468618 C / A
gnomAD v2:
2-179468618-C-A
gnomAD v3:
2-178603891-C-A
gnomAD v4:
2-178603891-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178603891C>A , CM000664.2:g.178603891C>A | GRCh38 |
| NC_000002.11:g.179468618C>A , CM000664.1:g.179468618C>A | GRCh37 |
| NC_000002.10:g.179176863C>A | NCBI36 |
| NG_011618.3:g.231912G>T , LRG_391:g.231912G>T | |
| NG_051363.1:g.86065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47092G>T (TTN) | ENSP00000343764.6:p.Ala15698Ser | |
| ENST00000342175.11:c.28177G>T (TTN) | ENSP00000340554.6:p.Ala9393Ser | |
| ENST00000359218.10:c.27976G>T (TTN) | ENSP00000352154.5:p.Ala9326Ser | |
| ENST00000342175.10:c.28177G>T (TTN) | ENSP00000340554.6:p.Ala9393Ser | |
| ENST00000342992.10:c.47092G>T (TTN) | ENSP00000343764.6:p.Ala15698Ser | |
| ENST00000359218.9:c.27976G>T (TTN) | ENSP00000352154.5:p.Ala9326Ser | |
| ENST00000460472.6:c.27601G>T (TTN) | ENSP00000434586.1:p.Ala9201Ser | |
| ENST00000589042.5:c.54796G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala18266Ser | |
| ENST00000591111.5:c.49873G>T (TTN) | ENSP00000465570.1:p.Ala16625Ser | |
| ENST00000615779.4:c.49873G>T (TTN) | ENSP00000483597.1:p.Ala16625Ser | |
| NM_001256850.1:c.49873G>T (TTN) | NP_001243779.1:p.Ala16625Ser | |
| NM_001267550.2:c.54796G>T (TTN) MANE Select | NP_001254479.2:p.Ala18266Ser | |
| NM_003319.4:c.27601G>T (TTN) | NP_003310.4:p.Ala9201Ser | |
| NM_133378.4:c.47092G>T (TTN) | NP_596869.4:p.Ala15698Ser | |
| NM_133432.3:c.27976G>T (TTN) | NP_597676.3:p.Ala9326Ser | |
| NM_133437.4:c.28177G>T (TTN) | NP_597681.4:p.Ala9393Ser | |
| NR_038271.1:n.683-4276C>A (TTN-AS1) | ||
| NR_038272.1:n.3918-840C>A (TTN-AS1) | ||
| XM_011511729.1:c.53893G>T (TTN) | XP_011510031.1:p.Ala17965Ser | |
| XM_011511730.1:c.27787G>T (TTN) | XP_011510032.1:p.Ala9263Ser | |
| XM_011511731.1:c.27646G>T (TTN) | XP_011510033.1:p.Ala9216Ser | |
| XM_017004819.1:c.53689G>T (TTN) | XP_016860308.1:p.Ala17897Ser | |
| XM_017004820.1:c.49087G>T (TTN) | XP_016860309.1:p.Ala16363Ser | |
| XM_017004821.1:c.49084G>T (TTN) | XP_016860310.1:p.Ala16362Ser | |
| XM_017004822.1:c.46126G>T (TTN) | XP_016860311.1:p.Ala15376Ser | |
| XM_017004823.1:c.27742G>T (TTN) | XP_016860312.1:p.Ala9248Ser | |
| XM_024453094.1:c.49237G>T (TTN) | XP_024308862.1:p.Ala16413Ser | |
| XM_024453095.1:c.49234G>T (TTN) | XP_024308863.1:p.Ala16412Ser | |
| XM_024453096.1:c.48667G>T (TTN) | XP_024308864.1:p.Ala16223Ser | |
| XM_024453097.1:c.46009G>T (TTN) | XP_024308865.1:p.Ala15337Ser | |
| XM_024453098.1:c.45928G>T (TTN) | XP_024308866.1:p.Ala15310Ser | |
| XM_024453099.1:c.27691G>T (TTN) | XP_024308867.1:p.Ala9231Ser | |
| XM_024453100.1:c.17545G>T (TTN) | XP_024308868.1:p.Ala5849Ser |