Linked Data
ClinVar Variation Id:
167759
dbSNP Id:
rs575939045
ExAC:
2:179407526 C / T
gnomAD v2:
2-179407526-C-T
gnomAD v3:
2-178542799-C-T
gnomAD v4:
2-178542799-C-T
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542799C>T , CM000664.2:g.178542799C>T | GRCh38 |
| NC_000002.11:g.179407526C>T , CM000664.1:g.179407526C>T | GRCh37 |
| NC_000002.10:g.179115772C>T | NCBI36 |
| NG_011618.3:g.293004G>A , LRG_391:g.293004G>A | |
| NG_051363.1:g.24973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89351G>A (TTN) | ENSP00000343764.6:p.Arg29784His | |
| ENST00000342175.11:c.70436G>A (TTN) | ENSP00000340554.6:p.Arg23479His | |
| ENST00000359218.10:c.70235G>A (TTN) | ENSP00000352154.5:p.Arg23412His | |
| ENST00000342175.10:c.70436G>A (TTN) | ENSP00000340554.6:p.Arg23479His | |
| ENST00000342992.10:c.89351G>A (TTN) | ENSP00000343764.6:p.Arg29784His | |
| ENST00000359218.9:c.70235G>A (TTN) | ENSP00000352154.5:p.Arg23412His | |
| ENST00000460472.6:c.69860G>A (TTN) | ENSP00000434586.1:p.Arg23287His | |
| ENST00000589042.5:c.97055G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32352His | |
| ENST00000591111.5:c.92132G>A (TTN) | ENSP00000465570.1:p.Arg30711His | |
| ENST00000615779.4:c.92132G>A (TTN) | ENSP00000483597.1:p.Arg30711His | |
| NM_001256850.1:c.92132G>A (TTN) | NP_001243779.1:p.Arg30711His | |
| NM_001267550.2:c.97055G>A (TTN) MANE Select | NP_001254479.2:p.Arg32352His | |
| NM_003319.4:c.69860G>A (TTN) | NP_003310.4:p.Arg23287His | |
| NM_133378.4:c.89351G>A (TTN) | NP_596869.4:p.Arg29784His | |
| NM_133432.3:c.70235G>A (TTN) | NP_597676.3:p.Arg23412His | |
| NM_133437.4:c.70436G>A (TTN) | NP_597681.4:p.Arg23479His | |
| NR_038271.1:n.446+19163C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+438C>T (TTN-AS1) | ||
| XM_011511729.1:c.96152G>A (TTN) | XP_011510031.1:p.Arg32051His | |
| XM_011511730.1:c.70046G>A (TTN) | XP_011510032.1:p.Arg23349His | |
| XM_011511731.1:c.69905G>A (TTN) | XP_011510033.1:p.Arg23302His | |
| XM_017004819.1:c.95948G>A (TTN) | XP_016860308.1:p.Arg31983His | |
| XM_017004820.1:c.91346G>A (TTN) | XP_016860309.1:p.Arg30449His | |
| XM_017004821.1:c.91343G>A (TTN) | XP_016860310.1:p.Arg30448His | |
| XM_017004822.1:c.88385G>A (TTN) | XP_016860311.1:p.Arg29462His | |
| XM_017004823.1:c.70001G>A (TTN) | XP_016860312.1:p.Arg23334His | |
| XM_024453094.1:c.91496G>A (TTN) | XP_024308862.1:p.Arg30499His | |
| XM_024453095.1:c.91493G>A (TTN) | XP_024308863.1:p.Arg30498His | |
| XM_024453096.1:c.90926G>A (TTN) | XP_024308864.1:p.Arg30309His | |
| XM_024453097.1:c.88268G>A (TTN) | XP_024308865.1:p.Arg29423His | |
| XM_024453098.1:c.88187G>A (TTN) | XP_024308866.1:p.Arg29396His | |
| XM_024453099.1:c.69950G>A (TTN) | XP_024308867.1:p.Arg23317His | |
| XM_024453100.1:c.59804G>A (TTN) | XP_024308868.1:p.Arg19935His |