Linked Data
ClinVar Variation Id:
167776
ClinVar RCV Id:
RCV000154061
RCV000723796
RCV001131520
RCV001131519
RCV001131521
RCV001131518
RCV001134510
RCV002453505
dbSNP Id:
rs727504191
gnomAD v2:
2-179454896-C-T
gnomAD v3:
2-178590169-C-T
gnomAD v4:
2-178590169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590169C>T , CM000664.2:g.178590169C>T | GRCh38 |
| NC_000002.11:g.179454896C>T , CM000664.1:g.179454896C>T | GRCh37 |
| NC_000002.10:g.179163142C>T | NCBI36 |
| NG_011618.3:g.245634G>A , LRG_391:g.245634G>A | |
| NG_051363.1:g.72343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53852G>A (TTN) | ENSP00000343764.6:p.Arg17951Gln | |
| ENST00000342175.11:c.34937G>A (TTN) | ENSP00000340554.6:p.Arg11646Gln | |
| ENST00000359218.10:c.34736G>A (TTN) | ENSP00000352154.5:p.Arg11579Gln | |
| ENST00000342175.10:c.34937G>A (TTN) | ENSP00000340554.6:p.Arg11646Gln | |
| ENST00000342992.10:c.53852G>A (TTN) | ENSP00000343764.6:p.Arg17951Gln | |
| ENST00000359218.9:c.34736G>A (TTN) | ENSP00000352154.5:p.Arg11579Gln | |
| ENST00000460472.6:c.34361G>A (TTN) | ENSP00000434586.1:p.Arg11454Gln | |
| ENST00000589042.5:c.61556G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20519Gln | |
| ENST00000591111.5:c.56633G>A (TTN) | ENSP00000465570.1:p.Arg18878Gln | |
| ENST00000615779.4:c.56633G>A (TTN) | ENSP00000483597.1:p.Arg18878Gln | |
| NM_001256850.1:c.56633G>A (TTN) | NP_001243779.1:p.Arg18878Gln | |
| NM_001267550.2:c.61556G>A (TTN) MANE Select | NP_001254479.2:p.Arg20519Gln | |
| NM_003319.4:c.34361G>A (TTN) | NP_003310.4:p.Arg11454Gln | |
| NM_133378.4:c.53852G>A (TTN) | NP_596869.4:p.Arg17951Gln | |
| NM_133432.3:c.34736G>A (TTN) | NP_597676.3:p.Arg11579Gln | |
| NM_133437.4:c.34937G>A (TTN) | NP_597681.4:p.Arg11646Gln | |
| NR_038271.1:n.597-7427C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-970C>T (TTN-AS1) | ||
| XM_011511729.1:c.60653G>A (TTN) | XP_011510031.1:p.Arg20218Gln | |
| XM_011511730.1:c.34547G>A (TTN) | XP_011510032.1:p.Arg11516Gln | |
| XM_011511731.1:c.34406G>A (TTN) | XP_011510033.1:p.Arg11469Gln | |
| XM_017004819.1:c.60449G>A (TTN) | XP_016860308.1:p.Arg20150Gln | |
| XM_017004820.1:c.55847G>A (TTN) | XP_016860309.1:p.Arg18616Gln | |
| XM_017004821.1:c.55844G>A (TTN) | XP_016860310.1:p.Arg18615Gln | |
| XM_017004822.1:c.52886G>A (TTN) | XP_016860311.1:p.Arg17629Gln | |
| XM_017004823.1:c.34502G>A (TTN) | XP_016860312.1:p.Arg11501Gln | |
| XM_024453094.1:c.55997G>A (TTN) | XP_024308862.1:p.Arg18666Gln | |
| XM_024453095.1:c.55994G>A (TTN) | XP_024308863.1:p.Arg18665Gln | |
| XM_024453096.1:c.55427G>A (TTN) | XP_024308864.1:p.Arg18476Gln | |
| XM_024453097.1:c.52769G>A (TTN) | XP_024308865.1:p.Arg17590Gln | |
| XM_024453098.1:c.52688G>A (TTN) | XP_024308866.1:p.Arg17563Gln | |
| XM_024453099.1:c.34451G>A (TTN) | XP_024308867.1:p.Arg11484Gln | |
| XM_024453100.1:c.24305G>A (TTN) | XP_024308868.1:p.Arg8102Gln |