Linked Data
ClinVar Variation Id:
47608
dbSNP Id:
rs368877793
ExAC:
2:179403936 A / G
gnomAD v2:
2-179403936-A-G
gnomAD v3:
2-178539209-A-G
gnomAD v4:
2-178539209-A-G
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539209A>G , CM000664.2:g.178539209A>G | GRCh38 |
| NC_000002.11:g.179403936A>G , CM000664.1:g.179403936A>G | GRCh37 |
| NC_000002.10:g.179112182A>G | NCBI36 |
| NG_011618.3:g.296594T>C , LRG_391:g.296594T>C | |
| NG_051363.1:g.21383A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91022T>C (TTN) | ENSP00000343764.6:p.Val30341Ala | |
| ENST00000342175.11:c.72107T>C (TTN) | ENSP00000340554.6:p.Val24036Ala | |
| ENST00000359218.10:c.71906T>C (TTN) | ENSP00000352154.5:p.Val23969Ala | |
| ENST00000342175.10:c.72107T>C (TTN) | ENSP00000340554.6:p.Val24036Ala | |
| ENST00000342992.10:c.91022T>C (TTN) | ENSP00000343764.6:p.Val30341Ala | |
| ENST00000359218.9:c.71906T>C (TTN) | ENSP00000352154.5:p.Val23969Ala | |
| ENST00000460472.6:c.71531T>C (TTN) | ENSP00000434586.1:p.Val23844Ala | |
| ENST00000589042.5:c.98726T>C (TTN) MANE Select | ENSP00000467141.1:p.Val32909Ala | |
| ENST00000591111.5:c.93803T>C (TTN) | ENSP00000465570.1:p.Val31268Ala | |
| ENST00000615779.4:c.93803T>C (TTN) | ENSP00000483597.1:p.Val31268Ala | |
| NM_001256850.1:c.93803T>C (TTN) | NP_001243779.1:p.Val31268Ala | |
| NM_001267550.2:c.98726T>C (TTN) MANE Select | NP_001254479.2:p.Val32909Ala | |
| NM_003319.4:c.71531T>C (TTN) | NP_003310.4:p.Val23844Ala | |
| NM_133378.4:c.91022T>C (TTN) | NP_596869.4:p.Val30341Ala | |
| NM_133432.3:c.71906T>C (TTN) | NP_597676.3:p.Val23969Ala | |
| NM_133437.4:c.72107T>C (TTN) | NP_597681.4:p.Val24036Ala | |
| NR_038271.1:n.446+15573A>G (TTN-AS1) | ||
| NR_038272.1:n.1159A>G (TTN-AS1) | ||
| XM_011511729.1:c.97823T>C (TTN) | XP_011510031.1:p.Val32608Ala | |
| XM_011511730.1:c.71717T>C (TTN) | XP_011510032.1:p.Val23906Ala | |
| XM_011511731.1:c.71576T>C (TTN) | XP_011510033.1:p.Val23859Ala | |
| XM_017004819.1:c.97619T>C (TTN) | XP_016860308.1:p.Val32540Ala | |
| XM_017004820.1:c.93017T>C (TTN) | XP_016860309.1:p.Val31006Ala | |
| XM_017004821.1:c.93014T>C (TTN) | XP_016860310.1:p.Val31005Ala | |
| XM_017004822.1:c.90056T>C (TTN) | XP_016860311.1:p.Val30019Ala | |
| XM_017004823.1:c.71672T>C (TTN) | XP_016860312.1:p.Val23891Ala | |
| XM_024453094.1:c.93167T>C (TTN) | XP_024308862.1:p.Val31056Ala | |
| XM_024453095.1:c.93164T>C (TTN) | XP_024308863.1:p.Val31055Ala | |
| XM_024453096.1:c.92597T>C (TTN) | XP_024308864.1:p.Val30866Ala | |
| XM_024453097.1:c.89939T>C (TTN) | XP_024308865.1:p.Val29980Ala | |
| XM_024453098.1:c.89858T>C (TTN) | XP_024308866.1:p.Val29953Ala | |
| XM_024453099.1:c.71621T>C (TTN) | XP_024308867.1:p.Val23874Ala | |
| XM_024453100.1:c.61475T>C (TTN) | XP_024308868.1:p.Val20492Ala |