Linked Data
ClinVar Variation Id:
283714
ClinVar RCV Id:
RCV000268735
RCV000307537
RCV000313422
RCV000343013
RCV000370392
RCV000408107
RCV000642943
dbSNP Id:
rs764777213
ExAC:
2:179454756 C / T
gnomAD v2:
2-179454756-C-T
gnomAD v3:
2-178590029-C-T
gnomAD v4:
2-178590029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590029C>T , CM000664.2:g.178590029C>T | GRCh38 |
| NC_000002.11:g.179454756C>T , CM000664.1:g.179454756C>T | GRCh37 |
| NC_000002.10:g.179163002C>T | NCBI36 |
| NG_011618.3:g.245774G>A , LRG_391:g.245774G>A | |
| NG_051363.1:g.72203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53992G>A (TTN) | ENSP00000343764.6:p.Val17998Ile | |
| ENST00000342175.11:c.35077G>A (TTN) | ENSP00000340554.6:p.Val11693Ile | |
| ENST00000359218.10:c.34876G>A (TTN) | ENSP00000352154.5:p.Val11626Ile | |
| ENST00000342175.10:c.35077G>A (TTN) | ENSP00000340554.6:p.Val11693Ile | |
| ENST00000342992.10:c.53992G>A (TTN) | ENSP00000343764.6:p.Val17998Ile | |
| ENST00000359218.9:c.34876G>A (TTN) | ENSP00000352154.5:p.Val11626Ile | |
| ENST00000460472.6:c.34501G>A (TTN) | ENSP00000434586.1:p.Val11501Ile | |
| ENST00000589042.5:c.61696G>A (TTN) MANE Select | ENSP00000467141.1:p.Val20566Ile | |
| ENST00000591111.5:c.56773G>A (TTN) | ENSP00000465570.1:p.Val18925Ile | |
| ENST00000615779.4:c.56773G>A (TTN) | ENSP00000483597.1:p.Val18925Ile | |
| NM_001256850.1:c.56773G>A (TTN) | NP_001243779.1:p.Val18925Ile | |
| NM_001267550.2:c.61696G>A (TTN) MANE Select | NP_001254479.2:p.Val20566Ile | |
| NM_003319.4:c.34501G>A (TTN) | NP_003310.4:p.Val11501Ile | |
| NM_133378.4:c.53992G>A (TTN) | NP_596869.4:p.Val17998Ile | |
| NM_133432.3:c.34876G>A (TTN) | NP_597676.3:p.Val11626Ile | |
| NM_133437.4:c.35077G>A (TTN) | NP_597681.4:p.Val11693Ile | |
| NR_038271.1:n.597-7567C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1110C>T (TTN-AS1) | ||
| XM_011511729.1:c.60793G>A (TTN) | XP_011510031.1:p.Val20265Ile | |
| XM_011511730.1:c.34687G>A (TTN) | XP_011510032.1:p.Val11563Ile | |
| XM_011511731.1:c.34546G>A (TTN) | XP_011510033.1:p.Val11516Ile | |
| XM_017004819.1:c.60589G>A (TTN) | XP_016860308.1:p.Val20197Ile | |
| XM_017004820.1:c.55987G>A (TTN) | XP_016860309.1:p.Val18663Ile | |
| XM_017004821.1:c.55984G>A (TTN) | XP_016860310.1:p.Val18662Ile | |
| XM_017004822.1:c.53026G>A (TTN) | XP_016860311.1:p.Val17676Ile | |
| XM_017004823.1:c.34642G>A (TTN) | XP_016860312.1:p.Val11548Ile | |
| XM_024453094.1:c.56137G>A (TTN) | XP_024308862.1:p.Val18713Ile | |
| XM_024453095.1:c.56134G>A (TTN) | XP_024308863.1:p.Val18712Ile | |
| XM_024453096.1:c.55567G>A (TTN) | XP_024308864.1:p.Val18523Ile | |
| XM_024453097.1:c.52909G>A (TTN) | XP_024308865.1:p.Val17637Ile | |
| XM_024453098.1:c.52828G>A (TTN) | XP_024308866.1:p.Val17610Ile | |
| XM_024453099.1:c.34591G>A (TTN) | XP_024308867.1:p.Val11531Ile | |
| XM_024453100.1:c.24445G>A (TTN) | XP_024308868.1:p.Val8149Ile |