Linked Data
ClinVar Variation Id:
332715
ClinVar RCV Id:
RCV000281590
RCV000292301
RCV000334395
RCV000349601
RCV000389059
RCV001544655
RCV002374563
dbSNP Id:
rs55676195
ExAC:
2:179406161 C / T
gnomAD v2:
2-179406161-C-T
gnomAD v3:
2-178541434-C-T
gnomAD v4:
2-178541434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541434C>T , CM000664.2:g.178541434C>T | GRCh38 |
| NC_000002.11:g.179406161C>T , CM000664.1:g.179406161C>T | GRCh37 |
| NC_000002.10:g.179114407C>T | NCBI36 |
| NG_011618.3:g.294369G>A , LRG_391:g.294369G>A | |
| NG_051363.1:g.23608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89939G>A (TTN) | ENSP00000343764.6:p.Arg29980His | |
| ENST00000342175.11:c.71024G>A (TTN) | ENSP00000340554.6:p.Arg23675His | |
| ENST00000359218.10:c.70823G>A (TTN) | ENSP00000352154.5:p.Arg23608His | |
| ENST00000342175.10:c.71024G>A (TTN) | ENSP00000340554.6:p.Arg23675His | |
| ENST00000342992.10:c.89939G>A (TTN) | ENSP00000343764.6:p.Arg29980His | |
| ENST00000359218.9:c.70823G>A (TTN) | ENSP00000352154.5:p.Arg23608His | |
| ENST00000460472.6:c.70448G>A (TTN) | ENSP00000434586.1:p.Arg23483His | |
| ENST00000589042.5:c.97643G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32548His | |
| ENST00000591111.5:c.92720G>A (TTN) | ENSP00000465570.1:p.Arg30907His | |
| ENST00000615779.4:c.92720G>A (TTN) | ENSP00000483597.1:p.Arg30907His | |
| NM_001256850.1:c.92720G>A (TTN) | NP_001243779.1:p.Arg30907His | |
| NM_001267550.2:c.97643G>A (TTN) MANE Select | NP_001254479.2:p.Arg32548His | |
| NM_003319.4:c.70448G>A (TTN) | NP_003310.4:p.Arg23483His | |
| NM_133378.4:c.89939G>A (TTN) | NP_596869.4:p.Arg29980His | |
| NM_133432.3:c.70823G>A (TTN) | NP_597676.3:p.Arg23608His | |
| NM_133437.4:c.71024G>A (TTN) | NP_597681.4:p.Arg23675His | |
| NR_038271.1:n.446+17798C>T (TTN-AS1) | ||
| NR_038272.1:n.1904-788C>T (TTN-AS1) | ||
| XM_011511729.1:c.96740G>A (TTN) | XP_011510031.1:p.Arg32247His | |
| XM_011511730.1:c.70634G>A (TTN) | XP_011510032.1:p.Arg23545His | |
| XM_011511731.1:c.70493G>A (TTN) | XP_011510033.1:p.Arg23498His | |
| XM_017004819.1:c.96536G>A (TTN) | XP_016860308.1:p.Arg32179His | |
| XM_017004820.1:c.91934G>A (TTN) | XP_016860309.1:p.Arg30645His | |
| XM_017004821.1:c.91931G>A (TTN) | XP_016860310.1:p.Arg30644His | |
| XM_017004822.1:c.88973G>A (TTN) | XP_016860311.1:p.Arg29658His | |
| XM_017004823.1:c.70589G>A (TTN) | XP_016860312.1:p.Arg23530His | |
| XM_024453094.1:c.92084G>A (TTN) | XP_024308862.1:p.Arg30695His | |
| XM_024453095.1:c.92081G>A (TTN) | XP_024308863.1:p.Arg30694His | |
| XM_024453096.1:c.91514G>A (TTN) | XP_024308864.1:p.Arg30505His | |
| XM_024453097.1:c.88856G>A (TTN) | XP_024308865.1:p.Arg29619His | |
| XM_024453098.1:c.88775G>A (TTN) | XP_024308866.1:p.Arg29592His | |
| XM_024453099.1:c.70538G>A (TTN) | XP_024308867.1:p.Arg23513His | |
| XM_024453100.1:c.60392G>A (TTN) | XP_024308868.1:p.Arg20131His |