Linked Data
ClinVar Variation Id:
535352
dbSNP Id:
rs369429739
ExAC:
2:179397655 C / T
gnomAD v2:
2-179397655-C-T
gnomAD v3:
2-178532928-C-T
gnomAD v4:
2-178532928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532928C>T , CM000664.2:g.178532928C>T | GRCh38 |
| NC_000002.11:g.179397655C>T , CM000664.1:g.179397655C>T | GRCh37 |
| NC_000002.10:g.179105901C>T | NCBI36 |
| NG_011618.3:g.302875G>A , LRG_391:g.302875G>A | |
| NG_051363.1:g.15102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95983G>A (TTN) | ENSP00000343764.6:p.Val31995Met | |
| ENST00000342175.11:c.77068G>A (TTN) | ENSP00000340554.6:p.Val25690Met | |
| ENST00000359218.10:c.76867G>A (TTN) | ENSP00000352154.5:p.Val25623Met | |
| ENST00000342175.10:c.77068G>A (TTN) | ENSP00000340554.6:p.Val25690Met | |
| ENST00000342992.10:c.95983G>A (TTN) | ENSP00000343764.6:p.Val31995Met | |
| ENST00000359218.9:c.76867G>A (TTN) | ENSP00000352154.5:p.Val25623Met | |
| ENST00000460472.6:c.76492G>A (TTN) | ENSP00000434586.1:p.Val25498Met | |
| ENST00000589042.5:c.103687G>A (TTN) MANE Select | ENSP00000467141.1:p.Val34563Met | |
| ENST00000591111.5:c.98764G>A (TTN) | ENSP00000465570.1:p.Val32922Met | |
| ENST00000615779.4:c.98764G>A (TTN) | ENSP00000483597.1:p.Val32922Met | |
| NM_001256850.1:c.98764G>A (TTN) | NP_001243779.1:p.Val32922Met | |
| NM_001267550.2:c.103687G>A (TTN) MANE Select | NP_001254479.2:p.Val34563Met | |
| NM_003319.4:c.76492G>A (TTN) | NP_003310.4:p.Val25498Met | |
| NM_133378.4:c.95983G>A (TTN) | NP_596869.4:p.Val31995Met | |
| NM_133432.3:c.76867G>A (TTN) | NP_597676.3:p.Val25623Met | |
| NM_133437.4:c.77068G>A (TTN) | NP_597681.4:p.Val25690Met | |
| NR_038271.1:n.446+9292C>T (TTN-AS1) | ||
| NR_038272.1:n.220-2804C>T (TTN-AS1) | ||
| XM_011511729.1:c.102784G>A (TTN) | XP_011510031.1:p.Val34262Met | |
| XM_011511730.1:c.76678G>A (TTN) | XP_011510032.1:p.Val25560Met | |
| XM_011511731.1:c.76537G>A (TTN) | XP_011510033.1:p.Val25513Met | |
| XM_017004819.1:c.102580G>A (TTN) | XP_016860308.1:p.Val34194Met | |
| XM_017004820.1:c.97978G>A (TTN) | XP_016860309.1:p.Val32660Met | |
| XM_017004821.1:c.97975G>A (TTN) | XP_016860310.1:p.Val32659Met | |
| XM_017004822.1:c.95017G>A (TTN) | XP_016860311.1:p.Val31673Met | |
| XM_017004823.1:c.76633G>A (TTN) | XP_016860312.1:p.Val25545Met | |
| XM_024453094.1:c.98128G>A (TTN) | XP_024308862.1:p.Val32710Met | |
| XM_024453095.1:c.98125G>A (TTN) | XP_024308863.1:p.Val32709Met | |
| XM_024453096.1:c.97558G>A (TTN) | XP_024308864.1:p.Val32520Met | |
| XM_024453097.1:c.94900G>A (TTN) | XP_024308865.1:p.Val31634Met | |
| XM_024453098.1:c.94819G>A (TTN) | XP_024308866.1:p.Val31607Met | |
| XM_024453099.1:c.76582G>A (TTN) | XP_024308867.1:p.Val25528Met | |
| XM_024453100.1:c.66436G>A (TTN) | XP_024308868.1:p.Val22146Met |