Linked Data
ClinVar Variation Id:
283297
dbSNP Id:
rs201091376
ExAC:
2:179430976 C / T
gnomAD v2:
2-179430976-C-T
gnomAD v3:
2-178566249-C-T
gnomAD v4:
2-178566249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566249C>T , CM000664.2:g.178566249C>T | GRCh38 |
| NC_000002.11:g.179430976C>T , CM000664.1:g.179430976C>T | GRCh37 |
| NC_000002.10:g.179139222C>T | NCBI36 |
| NG_011618.3:g.269554G>A , LRG_391:g.269554G>A | |
| NG_051363.1:g.48423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72179G>A (TTN) | ENSP00000343764.6:p.Arg24060Gln | |
| ENST00000342175.11:c.53264G>A (TTN) | ENSP00000340554.6:p.Arg17755Gln | |
| ENST00000359218.10:c.53063G>A (TTN) | ENSP00000352154.5:p.Arg17688Gln | |
| ENST00000342175.10:c.53264G>A (TTN) | ENSP00000340554.6:p.Arg17755Gln | |
| ENST00000342992.10:c.72179G>A (TTN) | ENSP00000343764.6:p.Arg24060Gln | |
| ENST00000359218.9:c.53063G>A (TTN) | ENSP00000352154.5:p.Arg17688Gln | |
| ENST00000460472.6:c.52688G>A (TTN) | ENSP00000434586.1:p.Arg17563Gln | |
| ENST00000589042.5:c.79883G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26628Gln | |
| ENST00000591111.5:c.74960G>A (TTN) | ENSP00000465570.1:p.Arg24987Gln | |
| ENST00000615779.4:c.74960G>A (TTN) | ENSP00000483597.1:p.Arg24987Gln | |
| NM_001256850.1:c.74960G>A (TTN) | NP_001243779.1:p.Arg24987Gln | |
| NM_001267550.2:c.79883G>A (TTN) MANE Select | NP_001254479.2:p.Arg26628Gln | |
| NM_003319.4:c.52688G>A (TTN) | NP_003310.4:p.Arg17563Gln | |
| NM_133378.4:c.72179G>A (TTN) | NP_596869.4:p.Arg24060Gln | |
| NM_133432.3:c.53063G>A (TTN) | NP_597676.3:p.Arg17688Gln | |
| NM_133437.4:c.53264G>A (TTN) | NP_597681.4:p.Arg17755Gln | |
| NR_038271.1:n.447-5051C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16323C>T (TTN-AS1) | ||
| XM_011511729.1:c.78980G>A (TTN) | XP_011510031.1:p.Arg26327Gln | |
| XM_011511730.1:c.52874G>A (TTN) | XP_011510032.1:p.Arg17625Gln | |
| XM_011511731.1:c.52733G>A (TTN) | XP_011510033.1:p.Arg17578Gln | |
| XM_017004819.1:c.78776G>A (TTN) | XP_016860308.1:p.Arg26259Gln | |
| XM_017004820.1:c.74174G>A (TTN) | XP_016860309.1:p.Arg24725Gln | |
| XM_017004821.1:c.74171G>A (TTN) | XP_016860310.1:p.Arg24724Gln | |
| XM_017004822.1:c.71213G>A (TTN) | XP_016860311.1:p.Arg23738Gln | |
| XM_017004823.1:c.52829G>A (TTN) | XP_016860312.1:p.Arg17610Gln | |
| XM_024453094.1:c.74324G>A (TTN) | XP_024308862.1:p.Arg24775Gln | |
| XM_024453095.1:c.74321G>A (TTN) | XP_024308863.1:p.Arg24774Gln | |
| XM_024453096.1:c.73754G>A (TTN) | XP_024308864.1:p.Arg24585Gln | |
| XM_024453097.1:c.71096G>A (TTN) | XP_024308865.1:p.Arg23699Gln | |
| XM_024453098.1:c.71015G>A (TTN) | XP_024308866.1:p.Arg23672Gln | |
| XM_024453099.1:c.52778G>A (TTN) | XP_024308867.1:p.Arg17593Gln | |
| XM_024453100.1:c.42632G>A (TTN) | XP_024308868.1:p.Arg14211Gln |