Linked Data
ClinVar Variation Id:
195639
dbSNP Id:
rs377141765
ExAC:
2:179477175 C / T
gnomAD v2:
2-179477175-C-T
gnomAD v3:
2-178612448-C-T
gnomAD v4:
2-178612448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612448C>T , CM000664.2:g.178612448C>T | GRCh38 |
| NC_000002.11:g.179477175C>T , CM000664.1:g.179477175C>T | GRCh37 |
| NC_000002.10:g.179185420C>T | NCBI36 |
| NG_011618.3:g.223355G>A , LRG_391:g.223355G>A | |
| NG_051363.1:g.94622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42373G>A (TTN) | ENSP00000343764.6:p.Val14125Ile | |
| ENST00000342175.11:c.23458G>A (TTN) | ENSP00000340554.6:p.Val7820Ile | |
| ENST00000359218.10:c.23257G>A (TTN) | ENSP00000352154.5:p.Val7753Ile | |
| ENST00000342175.10:c.23458G>A (TTN) | ENSP00000340554.6:p.Val7820Ile | |
| ENST00000342992.10:c.42373G>A (TTN) | ENSP00000343764.6:p.Val14125Ile | |
| ENST00000359218.9:c.23257G>A (TTN) | ENSP00000352154.5:p.Val7753Ile | |
| ENST00000460472.6:c.22882G>A (TTN) | ENSP00000434586.1:p.Val7628Ile | |
| ENST00000589042.5:c.50077G>A (TTN) MANE Select | ENSP00000467141.1:p.Val16693Ile | |
| ENST00000591111.5:c.45154G>A (TTN) | ENSP00000465570.1:p.Val15052Ile | |
| ENST00000615779.4:c.45154G>A (TTN) | ENSP00000483597.1:p.Val15052Ile | |
| NM_001256850.1:c.45154G>A (TTN) | NP_001243779.1:p.Val15052Ile | |
| NM_001267550.2:c.50077G>A (TTN) MANE Select | NP_001254479.2:p.Val16693Ile | |
| NM_003319.4:c.22882G>A (TTN) | NP_003310.4:p.Val7628Ile | |
| NM_133378.4:c.42373G>A (TTN) | NP_596869.4:p.Val14125Ile | |
| NM_133432.3:c.23257G>A (TTN) | NP_597676.3:p.Val7753Ile | |
| NM_133437.4:c.23458G>A (TTN) | NP_597681.4:p.Val7820Ile | |
| NR_038271.1:n.783-1587C>T (TTN-AS1) | ||
| XM_011511729.1:c.49174G>A (TTN) | XP_011510031.1:p.Val16392Ile | |
| XM_011511730.1:c.23068G>A (TTN) | XP_011510032.1:p.Val7690Ile | |
| XM_011511731.1:c.22927G>A (TTN) | XP_011510033.1:p.Val7643Ile | |
| XM_017004819.1:c.48970G>A (TTN) | XP_016860308.1:p.Val16324Ile | |
| XM_017004820.1:c.44368G>A (TTN) | XP_016860309.1:p.Val14790Ile | |
| XM_017004821.1:c.44365G>A (TTN) | XP_016860310.1:p.Val14789Ile | |
| XM_017004822.1:c.41407G>A (TTN) | XP_016860311.1:p.Val13803Ile | |
| XM_017004823.1:c.23023G>A (TTN) | XP_016860312.1:p.Val7675Ile | |
| XM_024453094.1:c.44518G>A (TTN) | XP_024308862.1:p.Val14840Ile | |
| XM_024453095.1:c.44515G>A (TTN) | XP_024308863.1:p.Val14839Ile | |
| XM_024453096.1:c.43948G>A (TTN) | XP_024308864.1:p.Val14650Ile | |
| XM_024453097.1:c.41290G>A (TTN) | XP_024308865.1:p.Val13764Ile | |
| XM_024453098.1:c.41209G>A (TTN) | XP_024308866.1:p.Val13737Ile | |
| XM_024453099.1:c.22972G>A (TTN) | XP_024308867.1:p.Val7658Ile | |
| XM_024453100.1:c.12826G>A (TTN) | XP_024308868.1:p.Val4276Ile |