Linked Data
ClinVar Variation Id:
203098
dbSNP Id:
rs768358201
ExAC:
2:179395851 C / T
gnomAD v2:
2-179395851-C-T
gnomAD v3:
2-178531124-C-T
gnomAD v4:
2-178531124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531124C>T , CM000664.2:g.178531124C>T | GRCh38 |
| NC_000002.11:g.179395851C>T , CM000664.1:g.179395851C>T | GRCh37 |
| NC_000002.10:g.179104097C>T | NCBI36 |
| NG_011618.3:g.304679G>A , LRG_391:g.304679G>A | |
| NG_051363.1:g.13298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97787G>A (TTN) | ENSP00000343764.6:p.Arg32596His | |
| ENST00000342175.11:c.78872G>A (TTN) | ENSP00000340554.6:p.Arg26291His | |
| ENST00000359218.10:c.78671G>A (TTN) | ENSP00000352154.5:p.Arg26224His | |
| ENST00000342175.10:c.78872G>A (TTN) | ENSP00000340554.6:p.Arg26291His | |
| ENST00000342992.10:c.97787G>A (TTN) | ENSP00000343764.6:p.Arg32596His | |
| ENST00000359218.9:c.78671G>A (TTN) | ENSP00000352154.5:p.Arg26224His | |
| ENST00000460472.6:c.78296G>A (TTN) | ENSP00000434586.1:p.Arg26099His | |
| ENST00000589042.5:c.105491G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35164His | |
| ENST00000591111.5:c.100568G>A (TTN) | ENSP00000465570.1:p.Arg33523His | |
| ENST00000615779.4:c.100568G>A (TTN) | ENSP00000483597.1:p.Arg33523His | |
| NM_001256850.1:c.100568G>A (TTN) | NP_001243779.1:p.Arg33523His | |
| NM_001267550.2:c.105491G>A (TTN) MANE Select | NP_001254479.2:p.Arg35164His | |
| NM_003319.4:c.78296G>A (TTN) | NP_003310.4:p.Arg26099His | |
| NM_133378.4:c.97787G>A (TTN) | NP_596869.4:p.Arg32596His | |
| NM_133432.3:c.78671G>A (TTN) | NP_597676.3:p.Arg26224His | |
| NM_133437.4:c.78872G>A (TTN) | NP_597681.4:p.Arg26291His | |
| NR_038271.1:n.446+7488C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4608C>T (TTN-AS1) | ||
| XM_011511729.1:c.104588G>A (TTN) | XP_011510031.1:p.Arg34863His | |
| XM_011511730.1:c.78482G>A (TTN) | XP_011510032.1:p.Arg26161His | |
| XM_011511731.1:c.78341G>A (TTN) | XP_011510033.1:p.Arg26114His | |
| XM_017004819.1:c.104384G>A (TTN) | XP_016860308.1:p.Arg34795His | |
| XM_017004820.1:c.99782G>A (TTN) | XP_016860309.1:p.Arg33261His | |
| XM_017004821.1:c.99779G>A (TTN) | XP_016860310.1:p.Arg33260His | |
| XM_017004822.1:c.96821G>A (TTN) | XP_016860311.1:p.Arg32274His | |
| XM_017004823.1:c.78437G>A (TTN) | XP_016860312.1:p.Arg26146His | |
| XM_024453094.1:c.99932G>A (TTN) | XP_024308862.1:p.Arg33311His | |
| XM_024453095.1:c.99929G>A (TTN) | XP_024308863.1:p.Arg33310His | |
| XM_024453096.1:c.99362G>A (TTN) | XP_024308864.1:p.Arg33121His | |
| XM_024453097.1:c.96704G>A (TTN) | XP_024308865.1:p.Arg32235His | |
| XM_024453098.1:c.96623G>A (TTN) | XP_024308866.1:p.Arg32208His | |
| XM_024453099.1:c.78386G>A (TTN) | XP_024308867.1:p.Arg26129His | |
| XM_024453100.1:c.68240G>A (TTN) | XP_024308868.1:p.Arg22747His |