Linked Data
ClinVar Variation Id:
203115
dbSNP Id:
rs770904787
ExAC:
2:179393039 C / T
gnomAD v2:
2-179393039-C-T
gnomAD v4:
2-178528312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528312C>T , CM000664.2:g.178528312C>T | GRCh38 |
| NC_000002.11:g.179393039C>T , CM000664.1:g.179393039C>T | GRCh37 |
| NC_000002.10:g.179101285C>T | NCBI36 |
| NG_011618.3:g.307491G>A , LRG_391:g.307491G>A | |
| NG_051363.1:g.10486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99635G>A (TTN) | ENSP00000343764.6:p.Arg33212His | |
| ENST00000342175.11:c.80720G>A (TTN) | ENSP00000340554.6:p.Arg26907His | |
| ENST00000359218.10:c.80519G>A (TTN) | ENSP00000352154.5:p.Arg26840His | |
| ENST00000342175.10:c.80720G>A (TTN) | ENSP00000340554.6:p.Arg26907His | |
| ENST00000342992.10:c.99635G>A (TTN) | ENSP00000343764.6:p.Arg33212His | |
| ENST00000359218.9:c.80519G>A (TTN) | ENSP00000352154.5:p.Arg26840His | |
| ENST00000460472.6:c.80144G>A (TTN) | ENSP00000434586.1:p.Arg26715His | |
| ENST00000589042.5:c.107339G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35780His | |
| ENST00000591111.5:c.102416G>A (TTN) | ENSP00000465570.1:p.Arg34139His | |
| ENST00000615779.4:c.102416G>A (TTN) | ENSP00000483597.1:p.Arg34139His | |
| NM_001256850.1:c.102416G>A (TTN) | NP_001243779.1:p.Arg34139His | |
| NM_001267550.2:c.107339G>A (TTN) MANE Select | NP_001254479.2:p.Arg35780His | |
| NM_003319.4:c.80144G>A (TTN) | NP_003310.4:p.Arg26715His | |
| NM_133378.4:c.99635G>A (TTN) | NP_596869.4:p.Arg33212His | |
| NM_133432.3:c.80519G>A (TTN) | NP_597676.3:p.Arg26840His | |
| NM_133437.4:c.80720G>A (TTN) | NP_597681.4:p.Arg26907His | |
| NR_038271.1:n.446+4676C>T (TTN-AS1) | ||
| NR_038272.1:n.219+4676C>T (TTN-AS1) | ||
| XM_011511729.1:c.106436G>A (TTN) | XP_011510031.1:p.Arg35479His | |
| XM_011511730.1:c.80330G>A (TTN) | XP_011510032.1:p.Arg26777His | |
| XM_011511731.1:c.80189G>A (TTN) | XP_011510033.1:p.Arg26730His | |
| XM_017004819.1:c.106232G>A (TTN) | XP_016860308.1:p.Arg35411His | |
| XM_017004820.1:c.101630G>A (TTN) | XP_016860309.1:p.Arg33877His | |
| XM_017004821.1:c.101627G>A (TTN) | XP_016860310.1:p.Arg33876His | |
| XM_017004822.1:c.98669G>A (TTN) | XP_016860311.1:p.Arg32890His | |
| XM_017004823.1:c.80285G>A (TTN) | XP_016860312.1:p.Arg26762His | |
| XM_024453094.1:c.101780G>A (TTN) | XP_024308862.1:p.Arg33927His | |
| XM_024453095.1:c.101777G>A (TTN) | XP_024308863.1:p.Arg33926His | |
| XM_024453096.1:c.101210G>A (TTN) | XP_024308864.1:p.Arg33737His | |
| XM_024453097.1:c.98552G>A (TTN) | XP_024308865.1:p.Arg32851His | |
| XM_024453098.1:c.98471G>A (TTN) | XP_024308866.1:p.Arg32824His | |
| XM_024453099.1:c.80234G>A (TTN) | XP_024308867.1:p.Arg26745His | |
| XM_024453100.1:c.70088G>A (TTN) | XP_024308868.1:p.Arg23363His |