Linked Data
ClinVar Variation Id:
47302
ClinVar RCV Id:
RCV000040572
RCV000172643
RCV000252755
RCV000263162
RCV000374141
RCV000315908
RCV000330895
RCV000370274
RCV001079127
RCV000768933
RCV001781363
RCV004534925
dbSNP Id:
rs55837610
ExAC:
2:179439154 A / G
gnomAD v2:
2-179439154-A-G
gnomAD v3:
2-178574427-A-G
gnomAD v4:
2-178574427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574427A>G , CM000664.2:g.178574427A>G | GRCh38 |
| NC_000002.11:g.179439154A>G , CM000664.1:g.179439154A>G | GRCh37 |
| NC_000002.10:g.179147400A>G | NCBI36 |
| NG_011618.3:g.261376T>C , LRG_391:g.261376T>C | |
| NG_051363.1:g.56601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64001T>C (TTN) | ENSP00000343764.6:p.Ile21334Thr | |
| ENST00000342175.11:c.45086T>C (TTN) | ENSP00000340554.6:p.Ile15029Thr | |
| ENST00000359218.10:c.44885T>C (TTN) | ENSP00000352154.5:p.Ile14962Thr | |
| ENST00000342175.10:c.45086T>C (TTN) | ENSP00000340554.6:p.Ile15029Thr | |
| ENST00000342992.10:c.64001T>C (TTN) | ENSP00000343764.6:p.Ile21334Thr | |
| ENST00000359218.9:c.44885T>C (TTN) | ENSP00000352154.5:p.Ile14962Thr | |
| ENST00000460472.6:c.44510T>C (TTN) | ENSP00000434586.1:p.Ile14837Thr | |
| ENST00000589042.5:c.71705T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile23902Thr | |
| ENST00000591111.5:c.66782T>C (TTN) | ENSP00000465570.1:p.Ile22261Thr | |
| ENST00000615779.4:c.66782T>C (TTN) | ENSP00000483597.1:p.Ile22261Thr | |
| NM_001256850.1:c.66782T>C (TTN) | NP_001243779.1:p.Ile22261Thr | |
| NM_001267550.2:c.71705T>C (TTN) MANE Select | NP_001254479.2:p.Ile23902Thr | |
| NM_003319.4:c.44510T>C (TTN) | NP_003310.4:p.Ile14837Thr | |
| NM_133378.4:c.64001T>C (TTN) | NP_596869.4:p.Ile21334Thr | |
| NM_133432.3:c.44885T>C (TTN) | NP_597676.3:p.Ile14962Thr | |
| NM_133437.4:c.45086T>C (TTN) | NP_597681.4:p.Ile15029Thr | |
| NR_038271.1:n.596+2978A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8145A>G (TTN-AS1) | ||
| XM_011511729.1:c.70802T>C (TTN) | XP_011510031.1:p.Ile23601Thr | |
| XM_011511730.1:c.44696T>C (TTN) | XP_011510032.1:p.Ile14899Thr | |
| XM_011511731.1:c.44555T>C (TTN) | XP_011510033.1:p.Ile14852Thr | |
| XM_017004819.1:c.70598T>C (TTN) | XP_016860308.1:p.Ile23533Thr | |
| XM_017004820.1:c.65996T>C (TTN) | XP_016860309.1:p.Ile21999Thr | |
| XM_017004821.1:c.65993T>C (TTN) | XP_016860310.1:p.Ile21998Thr | |
| XM_017004822.1:c.63035T>C (TTN) | XP_016860311.1:p.Ile21012Thr | |
| XM_017004823.1:c.44651T>C (TTN) | XP_016860312.1:p.Ile14884Thr | |
| XM_024453094.1:c.66146T>C (TTN) | XP_024308862.1:p.Ile22049Thr | |
| XM_024453095.1:c.66143T>C (TTN) | XP_024308863.1:p.Ile22048Thr | |
| XM_024453096.1:c.65576T>C (TTN) | XP_024308864.1:p.Ile21859Thr | |
| XM_024453097.1:c.62918T>C (TTN) | XP_024308865.1:p.Ile20973Thr | |
| XM_024453098.1:c.62837T>C (TTN) | XP_024308866.1:p.Ile20946Thr | |
| XM_024453099.1:c.44600T>C (TTN) | XP_024308867.1:p.Ile14867Thr | |
| XM_024453100.1:c.34454T>C (TTN) | XP_024308868.1:p.Ile11485Thr |