Linked Data
ClinVar Variation Id:
332778
ClinVar RCV Id:
RCV000283572
RCV000289220
RCV000333780
RCV000328072
RCV000381301
RCV000427377
RCV000866981
RCV002328851
RCV003137945
dbSNP Id:
rs368759398
ExAC:
2:179434890 A / G
gnomAD v2:
2-179434890-A-G
gnomAD v3:
2-178570163-A-G
gnomAD v4:
2-178570163-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570163A>G , CM000664.2:g.178570163A>G | GRCh38 |
| NC_000002.11:g.179434890A>G , CM000664.1:g.179434890A>G | GRCh37 |
| NC_000002.10:g.179143136A>G | NCBI36 |
| NG_011618.3:g.265640T>C , LRG_391:g.265640T>C | |
| NG_051363.1:g.52337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68265T>C (TTN) | ENSP00000343764.6:p.Val22755= | |
| ENST00000342175.11:c.49350T>C (TTN) | ENSP00000340554.6:p.Val16450= | |
| ENST00000359218.10:c.49149T>C (TTN) | ENSP00000352154.5:p.Val16383= | |
| ENST00000342175.10:c.49350T>C (TTN) | ENSP00000340554.6:p.Val16450= | |
| ENST00000342992.10:c.68265T>C (TTN) | ENSP00000343764.6:p.Val22755= | |
| ENST00000359218.9:c.49149T>C (TTN) | ENSP00000352154.5:p.Val16383= | |
| ENST00000460472.6:c.48774T>C (TTN) | ENSP00000434586.1:p.Val16258= | |
| ENST00000589042.5:c.75969T>C (TTN) MANE Select | ENSP00000467141.1:p.Val25323= | |
| ENST00000591111.5:c.71046T>C (TTN) | ENSP00000465570.1:p.Val23682= | |
| ENST00000615779.4:c.71046T>C (TTN) | ENSP00000483597.1:p.Val23682= | |
| NM_001256850.1:c.71046T>C (TTN) | NP_001243779.1:p.Val23682= | |
| NM_001267550.2:c.75969T>C (TTN) MANE Select | NP_001254479.2:p.Val25323= | |
| NM_003319.4:c.48774T>C (TTN) | NP_003310.4:p.Val16258= | |
| NM_133378.4:c.68265T>C (TTN) | NP_596869.4:p.Val22755= | |
| NM_133432.3:c.49149T>C (TTN) | NP_597676.3:p.Val16383= | |
| NM_133437.4:c.49350T>C (TTN) | NP_597681.4:p.Val16450= | |
| NR_038271.1:n.447-1137A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-12409A>G (TTN-AS1) | ||
| XM_011511729.1:c.75066T>C (TTN) | XP_011510031.1:p.Val25022= | |
| XM_011511730.1:c.48960T>C (TTN) | XP_011510032.1:p.Val16320= | |
| XM_011511731.1:c.48819T>C (TTN) | XP_011510033.1:p.Val16273= | |
| XM_017004819.1:c.74862T>C (TTN) | XP_016860308.1:p.Val24954= | |
| XM_017004820.1:c.70260T>C (TTN) | XP_016860309.1:p.Val23420= | |
| XM_017004821.1:c.70257T>C (TTN) | XP_016860310.1:p.Val23419= | |
| XM_017004822.1:c.67299T>C (TTN) | XP_016860311.1:p.Val22433= | |
| XM_017004823.1:c.48915T>C (TTN) | XP_016860312.1:p.Val16305= | |
| XM_024453094.1:c.70410T>C (TTN) | XP_024308862.1:p.Val23470= | |
| XM_024453095.1:c.70407T>C (TTN) | XP_024308863.1:p.Val23469= | |
| XM_024453096.1:c.69840T>C (TTN) | XP_024308864.1:p.Val23280= | |
| XM_024453097.1:c.67182T>C (TTN) | XP_024308865.1:p.Val22394= | |
| XM_024453098.1:c.67101T>C (TTN) | XP_024308866.1:p.Val22367= | |
| XM_024453099.1:c.48864T>C (TTN) | XP_024308867.1:p.Val16288= | |
| XM_024453100.1:c.38718T>C (TTN) | XP_024308868.1:p.Val12906= |