Linked Data
ClinVar Variation Id:
196094
ClinVar RCV Id:
RCV000176833
RCV000298781
RCV000311590
RCV000353719
RCV000357020
RCV000394646
RCV002503678
dbSNP Id:
rs794727456
gnomAD v2:
2-179437555-C-T
gnomAD v3:
2-178572828-C-T
gnomAD v4:
2-178572828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572828C>T , CM000664.2:g.178572828C>T | GRCh38 |
| NC_000002.11:g.179437555C>T , CM000664.1:g.179437555C>T | GRCh37 |
| NC_000002.10:g.179145801C>T | NCBI36 |
| NG_011618.3:g.262975G>A , LRG_391:g.262975G>A | |
| NG_051363.1:g.55002C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.65600G>A (TTN) | ENSP00000343764.6:p.Arg21867His | |
| ENST00000342175.11:c.46685G>A (TTN) | ENSP00000340554.6:p.Arg15562His | |
| ENST00000359218.10:c.46484G>A (TTN) | ENSP00000352154.5:p.Arg15495His | |
| ENST00000342175.10:c.46685G>A (TTN) | ENSP00000340554.6:p.Arg15562His | |
| ENST00000342992.10:c.65600G>A (TTN) | ENSP00000343764.6:p.Arg21867His | |
| ENST00000359218.9:c.46484G>A (TTN) | ENSP00000352154.5:p.Arg15495His | |
| ENST00000460472.6:c.46109G>A (TTN) | ENSP00000434586.1:p.Arg15370His | |
| ENST00000589042.5:c.73304G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24435His | |
| ENST00000591111.5:c.68381G>A (TTN) | ENSP00000465570.1:p.Arg22794His | |
| ENST00000615779.4:c.68381G>A (TTN) | ENSP00000483597.1:p.Arg22794His | |
| NM_001256850.1:c.68381G>A (TTN) | NP_001243779.1:p.Arg22794His | |
| NM_001267550.2:c.73304G>A (TTN) MANE Select | NP_001254479.2:p.Arg24435His | |
| NM_003319.4:c.46109G>A (TTN) | NP_003310.4:p.Arg15370His | |
| NM_133378.4:c.65600G>A (TTN) | NP_596869.4:p.Arg21867His | |
| NM_133432.3:c.46484G>A (TTN) | NP_597676.3:p.Arg15495His | |
| NM_133437.4:c.46685G>A (TTN) | NP_597681.4:p.Arg15562His | |
| NR_038271.1:n.596+1379C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9744C>T (TTN-AS1) | ||
| XM_011511729.1:c.72401G>A (TTN) | XP_011510031.1:p.Arg24134His | |
| XM_011511730.1:c.46295G>A (TTN) | XP_011510032.1:p.Arg15432His | |
| XM_011511731.1:c.46154G>A (TTN) | XP_011510033.1:p.Arg15385His | |
| XM_017004819.1:c.72197G>A (TTN) | XP_016860308.1:p.Arg24066His | |
| XM_017004820.1:c.67595G>A (TTN) | XP_016860309.1:p.Arg22532His | |
| XM_017004821.1:c.67592G>A (TTN) | XP_016860310.1:p.Arg22531His | |
| XM_017004822.1:c.64634G>A (TTN) | XP_016860311.1:p.Arg21545His | |
| XM_017004823.1:c.46250G>A (TTN) | XP_016860312.1:p.Arg15417His | |
| XM_024453094.1:c.67745G>A (TTN) | XP_024308862.1:p.Arg22582His | |
| XM_024453095.1:c.67742G>A (TTN) | XP_024308863.1:p.Arg22581His | |
| XM_024453096.1:c.67175G>A (TTN) | XP_024308864.1:p.Arg22392His | |
| XM_024453097.1:c.64517G>A (TTN) | XP_024308865.1:p.Arg21506His | |
| XM_024453098.1:c.64436G>A (TTN) | XP_024308866.1:p.Arg21479His | |
| XM_024453099.1:c.46199G>A (TTN) | XP_024308867.1:p.Arg15400His | |
| XM_024453100.1:c.36053G>A (TTN) | XP_024308868.1:p.Arg12018His |