Linked Data
ClinVar Variation Id:
497011
dbSNP Id:
rs762235688
ExAC:
2:179397555 C / T
gnomAD v2:
2-179397555-C-T
gnomAD v3:
2-178532828-C-T
gnomAD v4:
2-178532828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532828C>T , CM000664.2:g.178532828C>T | GRCh38 |
| NC_000002.11:g.179397555C>T , CM000664.1:g.179397555C>T | GRCh37 |
| NC_000002.10:g.179105801C>T | NCBI36 |
| NG_011618.3:g.302975G>A , LRG_391:g.302975G>A | |
| NG_051363.1:g.15002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96083G>A (TTN) | ENSP00000343764.6:p.Arg32028His | |
| ENST00000342175.11:c.77168G>A (TTN) | ENSP00000340554.6:p.Arg25723His | |
| ENST00000359218.10:c.76967G>A (TTN) | ENSP00000352154.5:p.Arg25656His | |
| ENST00000342175.10:c.77168G>A (TTN) | ENSP00000340554.6:p.Arg25723His | |
| ENST00000342992.10:c.96083G>A (TTN) | ENSP00000343764.6:p.Arg32028His | |
| ENST00000359218.9:c.76967G>A (TTN) | ENSP00000352154.5:p.Arg25656His | |
| ENST00000460472.6:c.76592G>A (TTN) | ENSP00000434586.1:p.Arg25531His | |
| ENST00000589042.5:c.103787G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34596His | |
| ENST00000591111.5:c.98864G>A (TTN) | ENSP00000465570.1:p.Arg32955His | |
| ENST00000615779.4:c.98864G>A (TTN) | ENSP00000483597.1:p.Arg32955His | |
| NM_001256850.1:c.98864G>A (TTN) | NP_001243779.1:p.Arg32955His | |
| NM_001267550.2:c.103787G>A (TTN) MANE Select | NP_001254479.2:p.Arg34596His | |
| NM_003319.4:c.76592G>A (TTN) | NP_003310.4:p.Arg25531His | |
| NM_133378.4:c.96083G>A (TTN) | NP_596869.4:p.Arg32028His | |
| NM_133432.3:c.76967G>A (TTN) | NP_597676.3:p.Arg25656His | |
| NM_133437.4:c.77168G>A (TTN) | NP_597681.4:p.Arg25723His | |
| NR_038271.1:n.446+9192C>T (TTN-AS1) | ||
| NR_038272.1:n.220-2904C>T (TTN-AS1) | ||
| XM_011511729.1:c.102884G>A (TTN) | XP_011510031.1:p.Arg34295His | |
| XM_011511730.1:c.76778G>A (TTN) | XP_011510032.1:p.Arg25593His | |
| XM_011511731.1:c.76637G>A (TTN) | XP_011510033.1:p.Arg25546His | |
| XM_017004819.1:c.102680G>A (TTN) | XP_016860308.1:p.Arg34227His | |
| XM_017004820.1:c.98078G>A (TTN) | XP_016860309.1:p.Arg32693His | |
| XM_017004821.1:c.98075G>A (TTN) | XP_016860310.1:p.Arg32692His | |
| XM_017004822.1:c.95117G>A (TTN) | XP_016860311.1:p.Arg31706His | |
| XM_017004823.1:c.76733G>A (TTN) | XP_016860312.1:p.Arg25578His | |
| XM_024453094.1:c.98228G>A (TTN) | XP_024308862.1:p.Arg32743His | |
| XM_024453095.1:c.98225G>A (TTN) | XP_024308863.1:p.Arg32742His | |
| XM_024453096.1:c.97658G>A (TTN) | XP_024308864.1:p.Arg32553His | |
| XM_024453097.1:c.95000G>A (TTN) | XP_024308865.1:p.Arg31667His | |
| XM_024453098.1:c.94919G>A (TTN) | XP_024308866.1:p.Arg31640His | |
| XM_024453099.1:c.76682G>A (TTN) | XP_024308867.1:p.Arg25561His | |
| XM_024453100.1:c.66536G>A (TTN) | XP_024308868.1:p.Arg22179His |