Linked Data
ClinVar Variation Id:
284250
dbSNP Id:
rs374876608
ExAC:
2:179401179 C / T
gnomAD v2:
2-179401179-C-T
gnomAD v3:
2-178536452-C-T
gnomAD v4:
2-178536452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536452C>T , CM000664.2:g.178536452C>T | GRCh38 |
| NC_000002.11:g.179401179C>T , CM000664.1:g.179401179C>T | GRCh37 |
| NC_000002.10:g.179109425C>T | NCBI36 |
| NG_011618.3:g.299351G>A , LRG_391:g.299351G>A | |
| NG_051363.1:g.18626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92591G>A (TTN) | ENSP00000343764.6:p.Arg30864His | |
| ENST00000342175.11:c.73676G>A (TTN) | ENSP00000340554.6:p.Arg24559His | |
| ENST00000359218.10:c.73475G>A (TTN) | ENSP00000352154.5:p.Arg24492His | |
| ENST00000342175.10:c.73676G>A (TTN) | ENSP00000340554.6:p.Arg24559His | |
| ENST00000342992.10:c.92591G>A (TTN) | ENSP00000343764.6:p.Arg30864His | |
| ENST00000359218.9:c.73475G>A (TTN) | ENSP00000352154.5:p.Arg24492His | |
| ENST00000460472.6:c.73100G>A (TTN) | ENSP00000434586.1:p.Arg24367His | |
| ENST00000589042.5:c.100295G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33432His | |
| ENST00000591111.5:c.95372G>A (TTN) | ENSP00000465570.1:p.Arg31791His | |
| ENST00000615779.4:c.95372G>A (TTN) | ENSP00000483597.1:p.Arg31791His | |
| NM_001256850.1:c.95372G>A (TTN) | NP_001243779.1:p.Arg31791His | |
| NM_001267550.2:c.100295G>A (TTN) MANE Select | NP_001254479.2:p.Arg33432His | |
| NM_003319.4:c.73100G>A (TTN) | NP_003310.4:p.Arg24367His | |
| NM_133378.4:c.92591G>A (TTN) | NP_596869.4:p.Arg30864His | |
| NM_133432.3:c.73475G>A (TTN) | NP_597676.3:p.Arg24492His | |
| NM_133437.4:c.73676G>A (TTN) | NP_597681.4:p.Arg24559His | |
| NR_038271.1:n.446+12816C>T (TTN-AS1) | ||
| NR_038272.1:n.316+624C>T (TTN-AS1) | ||
| XM_011511729.1:c.99392G>A (TTN) | XP_011510031.1:p.Arg33131His | |
| XM_011511730.1:c.73286G>A (TTN) | XP_011510032.1:p.Arg24429His | |
| XM_011511731.1:c.73145G>A (TTN) | XP_011510033.1:p.Arg24382His | |
| XM_017004819.1:c.99188G>A (TTN) | XP_016860308.1:p.Arg33063His | |
| XM_017004820.1:c.94586G>A (TTN) | XP_016860309.1:p.Arg31529His | |
| XM_017004821.1:c.94583G>A (TTN) | XP_016860310.1:p.Arg31528His | |
| XM_017004822.1:c.91625G>A (TTN) | XP_016860311.1:p.Arg30542His | |
| XM_017004823.1:c.73241G>A (TTN) | XP_016860312.1:p.Arg24414His | |
| XM_024453094.1:c.94736G>A (TTN) | XP_024308862.1:p.Arg31579His | |
| XM_024453095.1:c.94733G>A (TTN) | XP_024308863.1:p.Arg31578His | |
| XM_024453096.1:c.94166G>A (TTN) | XP_024308864.1:p.Arg31389His | |
| XM_024453097.1:c.91508G>A (TTN) | XP_024308865.1:p.Arg30503His | |
| XM_024453098.1:c.91427G>A (TTN) | XP_024308866.1:p.Arg30476His | |
| XM_024453099.1:c.73190G>A (TTN) | XP_024308867.1:p.Arg24397His | |
| XM_024453100.1:c.63044G>A (TTN) | XP_024308868.1:p.Arg21015His |