Linked Data
ClinVar Variation Id:
195710
dbSNP Id:
rs367603302
ExAC:
2:179474033 C / T
gnomAD v2:
2-179474033-C-T
gnomAD v3:
2-178609306-C-T
gnomAD v4:
2-178609306-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609306C>T , CM000664.2:g.178609306C>T | GRCh38 |
| NC_000002.11:g.179474033C>T , CM000664.1:g.179474033C>T | GRCh37 |
| NC_000002.10:g.179182278C>T | NCBI36 |
| NG_011618.3:g.226497G>A , LRG_391:g.226497G>A | |
| NG_051363.1:g.91480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44300G>A (TTN) | ENSP00000343764.6:p.Arg14767His | |
| ENST00000342175.11:c.25385G>A (TTN) | ENSP00000340554.6:p.Arg8462His | |
| ENST00000359218.10:c.25184G>A (TTN) | ENSP00000352154.5:p.Arg8395His | |
| ENST00000342175.10:c.25385G>A (TTN) | ENSP00000340554.6:p.Arg8462His | |
| ENST00000342992.10:c.44300G>A (TTN) | ENSP00000343764.6:p.Arg14767His | |
| ENST00000359218.9:c.25184G>A (TTN) | ENSP00000352154.5:p.Arg8395His | |
| ENST00000460472.6:c.24809G>A (TTN) | ENSP00000434586.1:p.Arg8270His | |
| ENST00000589042.5:c.52004G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17335His | |
| ENST00000591111.5:c.47081G>A (TTN) | ENSP00000465570.1:p.Arg15694His | |
| ENST00000615779.4:c.47081G>A (TTN) | ENSP00000483597.1:p.Arg15694His | |
| NM_001256850.1:c.47081G>A (TTN) | NP_001243779.1:p.Arg15694His | |
| NM_001267550.2:c.52004G>A (TTN) MANE Select | NP_001254479.2:p.Arg17335His | |
| NM_003319.4:c.24809G>A (TTN) | NP_003310.4:p.Arg8270His | |
| NM_133378.4:c.44300G>A (TTN) | NP_596869.4:p.Arg14767His | |
| NM_133432.3:c.25184G>A (TTN) | NP_597676.3:p.Arg8395His | |
| NM_133437.4:c.25385G>A (TTN) | NP_597681.4:p.Arg8462His | |
| NR_038271.1:n.782+1040C>T (TTN-AS1) | ||
| XM_011511729.1:c.51101G>A (TTN) | XP_011510031.1:p.Arg17034His | |
| XM_011511730.1:c.24995G>A (TTN) | XP_011510032.1:p.Arg8332His | |
| XM_011511731.1:c.24854G>A (TTN) | XP_011510033.1:p.Arg8285His | |
| XM_017004819.1:c.50897G>A (TTN) | XP_016860308.1:p.Arg16966His | |
| XM_017004820.1:c.46295G>A (TTN) | XP_016860309.1:p.Arg15432His | |
| XM_017004821.1:c.46292G>A (TTN) | XP_016860310.1:p.Arg15431His | |
| XM_017004822.1:c.43334G>A (TTN) | XP_016860311.1:p.Arg14445His | |
| XM_017004823.1:c.24950G>A (TTN) | XP_016860312.1:p.Arg8317His | |
| XM_024453094.1:c.46445G>A (TTN) | XP_024308862.1:p.Arg15482His | |
| XM_024453095.1:c.46442G>A (TTN) | XP_024308863.1:p.Arg15481His | |
| XM_024453096.1:c.45875G>A (TTN) | XP_024308864.1:p.Arg15292His | |
| XM_024453097.1:c.43217G>A (TTN) | XP_024308865.1:p.Arg14406His | |
| XM_024453098.1:c.43136G>A (TTN) | XP_024308866.1:p.Arg14379His | |
| XM_024453099.1:c.24899G>A (TTN) | XP_024308867.1:p.Arg8300His | |
| XM_024453100.1:c.14753G>A (TTN) | XP_024308868.1:p.Arg4918His |