Linked Data
ClinVar Variation Id:
202748
dbSNP Id:
rs200455644
ExAC:
2:179456400 C / T
gnomAD v2:
2-179456400-C-T
gnomAD v3:
2-178591673-C-T
gnomAD v4:
2-178591673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591673C>T , CM000664.2:g.178591673C>T | GRCh38 |
| NC_000002.11:g.179456400C>T , CM000664.1:g.179456400C>T | GRCh37 |
| NC_000002.10:g.179164646C>T | NCBI36 |
| NG_011618.3:g.244130G>A , LRG_391:g.244130G>A | |
| NG_051363.1:g.73847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52442G>A (TTN) | ENSP00000343764.6:p.Arg17481His | |
| ENST00000342175.11:c.33527G>A (TTN) | ENSP00000340554.6:p.Arg11176His | |
| ENST00000359218.10:c.33326G>A (TTN) | ENSP00000352154.5:p.Arg11109His | |
| ENST00000342175.10:c.33527G>A (TTN) | ENSP00000340554.6:p.Arg11176His | |
| ENST00000342992.10:c.52442G>A (TTN) | ENSP00000343764.6:p.Arg17481His | |
| ENST00000359218.9:c.33326G>A (TTN) | ENSP00000352154.5:p.Arg11109His | |
| ENST00000460472.6:c.32951G>A (TTN) | ENSP00000434586.1:p.Arg10984His | |
| ENST00000589042.5:c.60146G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20049His | |
| ENST00000591111.5:c.55223G>A (TTN) | ENSP00000465570.1:p.Arg18408His | |
| ENST00000615779.4:c.55223G>A (TTN) | ENSP00000483597.1:p.Arg18408His | |
| NM_001256850.1:c.55223G>A (TTN) | NP_001243779.1:p.Arg18408His | |
| NM_001267550.2:c.60146G>A (TTN) MANE Select | NP_001254479.2:p.Arg20049His | |
| NM_003319.4:c.32951G>A (TTN) | NP_003310.4:p.Arg10984His | |
| NM_133378.4:c.52442G>A (TTN) | NP_596869.4:p.Arg17481His | |
| NM_133432.3:c.33326G>A (TTN) | NP_597676.3:p.Arg11109His | |
| NM_133437.4:c.33527G>A (TTN) | NP_597681.4:p.Arg11176His | |
| NR_038271.1:n.597-5923C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+359C>T (TTN-AS1) | ||
| XM_011511729.1:c.59243G>A (TTN) | XP_011510031.1:p.Arg19748His | |
| XM_011511730.1:c.33137G>A (TTN) | XP_011510032.1:p.Arg11046His | |
| XM_011511731.1:c.32996G>A (TTN) | XP_011510033.1:p.Arg10999His | |
| XM_017004819.1:c.59039G>A (TTN) | XP_016860308.1:p.Arg19680His | |
| XM_017004820.1:c.54437G>A (TTN) | XP_016860309.1:p.Arg18146His | |
| XM_017004821.1:c.54434G>A (TTN) | XP_016860310.1:p.Arg18145His | |
| XM_017004822.1:c.51476G>A (TTN) | XP_016860311.1:p.Arg17159His | |
| XM_017004823.1:c.33092G>A (TTN) | XP_016860312.1:p.Arg11031His | |
| XM_024453094.1:c.54587G>A (TTN) | XP_024308862.1:p.Arg18196His | |
| XM_024453095.1:c.54584G>A (TTN) | XP_024308863.1:p.Arg18195His | |
| XM_024453096.1:c.54017G>A (TTN) | XP_024308864.1:p.Arg18006His | |
| XM_024453097.1:c.51359G>A (TTN) | XP_024308865.1:p.Arg17120His | |
| XM_024453098.1:c.51278G>A (TTN) | XP_024308866.1:p.Arg17093His | |
| XM_024453099.1:c.33041G>A (TTN) | XP_024308867.1:p.Arg11014His | |
| XM_024453100.1:c.22895G>A (TTN) | XP_024308868.1:p.Arg7632His |