Linked Data
ClinVar Variation Id:
202971
dbSNP Id:
rs544353741
ExAC:
2:179416714 A / G
gnomAD v2:
2-179416714-A-G
gnomAD v3:
2-178551987-A-G
gnomAD v4:
2-178551987-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551987A>G , CM000664.2:g.178551987A>G | GRCh38 |
| NC_000002.11:g.179416714A>G , CM000664.1:g.179416714A>G | GRCh37 |
| NC_000002.10:g.179124960A>G | NCBI36 |
| NG_011618.3:g.283816T>C , LRG_391:g.283816T>C | |
| NG_051363.1:g.34161A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83209T>C (TTN) | ENSP00000343764.6:p.Tyr27737His | |
| ENST00000342175.11:c.64294T>C (TTN) | ENSP00000340554.6:p.Tyr21432His | |
| ENST00000359218.10:c.64093T>C (TTN) | ENSP00000352154.5:p.Tyr21365His | |
| ENST00000342175.10:c.64294T>C (TTN) | ENSP00000340554.6:p.Tyr21432His | |
| ENST00000342992.10:c.83209T>C (TTN) | ENSP00000343764.6:p.Tyr27737His | |
| ENST00000359218.9:c.64093T>C (TTN) | ENSP00000352154.5:p.Tyr21365His | |
| ENST00000460472.6:c.63718T>C (TTN) | ENSP00000434586.1:p.Tyr21240His | |
| ENST00000589042.5:c.90913T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr30305His | |
| ENST00000591111.5:c.85990T>C (TTN) | ENSP00000465570.1:p.Tyr28664His | |
| ENST00000615779.4:c.85990T>C (TTN) | ENSP00000483597.1:p.Tyr28664His | |
| NM_001256850.1:c.85990T>C (TTN) | NP_001243779.1:p.Tyr28664His | |
| NM_001267550.2:c.90913T>C (TTN) MANE Select | NP_001254479.2:p.Tyr30305His | |
| NM_003319.4:c.63718T>C (TTN) | NP_003310.4:p.Tyr21240His | |
| NM_133378.4:c.83209T>C (TTN) | NP_596869.4:p.Tyr27737His | |
| NM_133432.3:c.64093T>C (TTN) | NP_597676.3:p.Tyr21365His | |
| NM_133437.4:c.64294T>C (TTN) | NP_597681.4:p.Tyr21432His | |
| NR_038271.1:n.447-19313A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9626A>G (TTN-AS1) | ||
| XM_011511729.1:c.90010T>C (TTN) | XP_011510031.1:p.Tyr30004His | |
| XM_011511730.1:c.63904T>C (TTN) | XP_011510032.1:p.Tyr21302His | |
| XM_011511731.1:c.63763T>C (TTN) | XP_011510033.1:p.Tyr21255His | |
| XM_017004819.1:c.89806T>C (TTN) | XP_016860308.1:p.Tyr29936His | |
| XM_017004820.1:c.85204T>C (TTN) | XP_016860309.1:p.Tyr28402His | |
| XM_017004821.1:c.85201T>C (TTN) | XP_016860310.1:p.Tyr28401His | |
| XM_017004822.1:c.82243T>C (TTN) | XP_016860311.1:p.Tyr27415His | |
| XM_017004823.1:c.63859T>C (TTN) | XP_016860312.1:p.Tyr21287His | |
| XM_024453094.1:c.85354T>C (TTN) | XP_024308862.1:p.Tyr28452His | |
| XM_024453095.1:c.85351T>C (TTN) | XP_024308863.1:p.Tyr28451His | |
| XM_024453096.1:c.84784T>C (TTN) | XP_024308864.1:p.Tyr28262His | |
| XM_024453097.1:c.82126T>C (TTN) | XP_024308865.1:p.Tyr27376His | |
| XM_024453098.1:c.82045T>C (TTN) | XP_024308866.1:p.Tyr27349His | |
| XM_024453099.1:c.63808T>C (TTN) | XP_024308867.1:p.Tyr21270His | |
| XM_024453100.1:c.53662T>C (TTN) | XP_024308868.1:p.Tyr17888His |