Linked Data
ClinVar Variation Id:
165979
dbSNP Id:
rs727503603
ExAC:
2:179469836 C / T
gnomAD v2:
2-179469836-C-T
gnomAD v3:
2-178605109-C-T
gnomAD v4:
2-178605109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605109C>T , CM000664.2:g.178605109C>T | GRCh38 |
| NC_000002.11:g.179469836C>T , CM000664.1:g.179469836C>T | GRCh37 |
| NC_000002.10:g.179178081C>T | NCBI36 |
| NG_011618.3:g.230694G>A , LRG_391:g.230694G>A | |
| NG_051363.1:g.87283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46364G>A (TTN) | ENSP00000343764.6:p.Arg15455Gln | |
| ENST00000342175.11:c.27449G>A (TTN) | ENSP00000340554.6:p.Arg9150Gln | |
| ENST00000359218.10:c.27248G>A (TTN) | ENSP00000352154.5:p.Arg9083Gln | |
| ENST00000342175.10:c.27449G>A (TTN) | ENSP00000340554.6:p.Arg9150Gln | |
| ENST00000342992.10:c.46364G>A (TTN) | ENSP00000343764.6:p.Arg15455Gln | |
| ENST00000359218.9:c.27248G>A (TTN) | ENSP00000352154.5:p.Arg9083Gln | |
| ENST00000460472.6:c.26873G>A (TTN) | ENSP00000434586.1:p.Arg8958Gln | |
| ENST00000589042.5:c.54068G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18023Gln | |
| ENST00000591111.5:c.49145G>A (TTN) | ENSP00000465570.1:p.Arg16382Gln | |
| ENST00000615779.4:c.49145G>A (TTN) | ENSP00000483597.1:p.Arg16382Gln | |
| NM_001256850.1:c.49145G>A (TTN) | NP_001243779.1:p.Arg16382Gln | |
| NM_001267550.2:c.54068G>A (TTN) MANE Select | NP_001254479.2:p.Arg18023Gln | |
| NM_003319.4:c.26873G>A (TTN) | NP_003310.4:p.Arg8958Gln | |
| NM_133378.4:c.46364G>A (TTN) | NP_596869.4:p.Arg15455Gln | |
| NM_133432.3:c.27248G>A (TTN) | NP_597676.3:p.Arg9083Gln | |
| NM_133437.4:c.27449G>A (TTN) | NP_597681.4:p.Arg9150Gln | |
| NR_038271.1:n.683-3058C>T (TTN-AS1) | ||
| NR_038272.1:n.4296C>T (TTN-AS1) | ||
| XM_011511729.1:c.53165G>A (TTN) | XP_011510031.1:p.Arg17722Gln | |
| XM_011511730.1:c.27059G>A (TTN) | XP_011510032.1:p.Arg9020Gln | |
| XM_011511731.1:c.26918G>A (TTN) | XP_011510033.1:p.Arg8973Gln | |
| XM_017004819.1:c.52961G>A (TTN) | XP_016860308.1:p.Arg17654Gln | |
| XM_017004820.1:c.48359G>A (TTN) | XP_016860309.1:p.Arg16120Gln | |
| XM_017004821.1:c.48356G>A (TTN) | XP_016860310.1:p.Arg16119Gln | |
| XM_017004822.1:c.45398G>A (TTN) | XP_016860311.1:p.Arg15133Gln | |
| XM_017004823.1:c.27014G>A (TTN) | XP_016860312.1:p.Arg9005Gln | |
| XM_024453094.1:c.48509G>A (TTN) | XP_024308862.1:p.Arg16170Gln | |
| XM_024453095.1:c.48506G>A (TTN) | XP_024308863.1:p.Arg16169Gln | |
| XM_024453096.1:c.47939G>A (TTN) | XP_024308864.1:p.Arg15980Gln | |
| XM_024453097.1:c.45281G>A (TTN) | XP_024308865.1:p.Arg15094Gln | |
| XM_024453098.1:c.45200G>A (TTN) | XP_024308866.1:p.Arg15067Gln | |
| XM_024453099.1:c.26963G>A (TTN) | XP_024308867.1:p.Arg8988Gln | |
| XM_024453100.1:c.16817G>A (TTN) | XP_024308868.1:p.Arg5606Gln |