Linked Data
ClinVar Variation Id:
192163
ClinVar RCV Id:
RCV000172656
RCV000266149
RCV000321127
RCV000311922
RCV000272074
RCV000385028
RCV000360816
RCV000471860
RCV001798623
RCV002321686
dbSNP Id:
rs377682563
ExAC:
2:179458451 C / T
gnomAD v2:
2-179458451-C-T
gnomAD v3:
2-178593724-C-T
gnomAD v4:
2-178593724-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593724C>T , CM000664.2:g.178593724C>T | GRCh38 |
| NC_000002.11:g.179458451C>T , CM000664.1:g.179458451C>T | GRCh37 |
| NC_000002.10:g.179166697C>T | NCBI36 |
| NG_011618.3:g.242079G>A , LRG_391:g.242079G>A | |
| NG_051363.1:g.75898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50872G>A (TTN) | ENSP00000343764.6:p.Val16958Ile | |
| ENST00000342175.11:c.31957G>A (TTN) | ENSP00000340554.6:p.Val10653Ile | |
| ENST00000359218.10:c.31756G>A (TTN) | ENSP00000352154.5:p.Val10586Ile | |
| ENST00000342175.10:c.31957G>A (TTN) | ENSP00000340554.6:p.Val10653Ile | |
| ENST00000342992.10:c.50872G>A (TTN) | ENSP00000343764.6:p.Val16958Ile | |
| ENST00000359218.9:c.31756G>A (TTN) | ENSP00000352154.5:p.Val10586Ile | |
| ENST00000460472.6:c.31381G>A (TTN) | ENSP00000434586.1:p.Val10461Ile | |
| ENST00000589042.5:c.58576G>A (TTN) MANE Select | ENSP00000467141.1:p.Val19526Ile | |
| ENST00000591111.5:c.53653G>A (TTN) | ENSP00000465570.1:p.Val17885Ile | |
| ENST00000615779.4:c.53653G>A (TTN) | ENSP00000483597.1:p.Val17885Ile | |
| NM_001256850.1:c.53653G>A (TTN) | NP_001243779.1:p.Val17885Ile | |
| NM_001267550.2:c.58576G>A (TTN) MANE Select | NP_001254479.2:p.Val19526Ile | |
| NM_003319.4:c.31381G>A (TTN) | NP_003310.4:p.Val10461Ile | |
| NM_133378.4:c.50872G>A (TTN) | NP_596869.4:p.Val16958Ile | |
| NM_133432.3:c.31756G>A (TTN) | NP_597676.3:p.Val10586Ile | |
| NM_133437.4:c.31957G>A (TTN) | NP_597681.4:p.Val10653Ile | |
| NR_038271.1:n.597-3872C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2410C>T (TTN-AS1) | ||
| XM_011511729.1:c.57673G>A (TTN) | XP_011510031.1:p.Val19225Ile | |
| XM_011511730.1:c.31567G>A (TTN) | XP_011510032.1:p.Val10523Ile | |
| XM_011511731.1:c.31426G>A (TTN) | XP_011510033.1:p.Val10476Ile | |
| XM_017004819.1:c.57469G>A (TTN) | XP_016860308.1:p.Val19157Ile | |
| XM_017004820.1:c.52867G>A (TTN) | XP_016860309.1:p.Val17623Ile | |
| XM_017004821.1:c.52864G>A (TTN) | XP_016860310.1:p.Val17622Ile | |
| XM_017004822.1:c.49906G>A (TTN) | XP_016860311.1:p.Val16636Ile | |
| XM_017004823.1:c.31522G>A (TTN) | XP_016860312.1:p.Val10508Ile | |
| XM_024453094.1:c.53017G>A (TTN) | XP_024308862.1:p.Val17673Ile | |
| XM_024453095.1:c.53014G>A (TTN) | XP_024308863.1:p.Val17672Ile | |
| XM_024453096.1:c.52447G>A (TTN) | XP_024308864.1:p.Val17483Ile | |
| XM_024453097.1:c.49789G>A (TTN) | XP_024308865.1:p.Val16597Ile | |
| XM_024453098.1:c.49708G>A (TTN) | XP_024308866.1:p.Val16570Ile | |
| XM_024453099.1:c.31471G>A (TTN) | XP_024308867.1:p.Val10491Ile | |
| XM_024453100.1:c.21325G>A (TTN) | XP_024308868.1:p.Val7109Ile |