Linked Data
ClinVar Variation Id:
137798
ClinVar RCV Id:
RCV000152272
RCV000229206
RCV000274784
RCV000314825
RCV000356882
RCV000401386
RCV000369478
RCV000619018
RCV001812061
dbSNP Id:
rs116592778
ExAC:
2:179457681 A / G
gnomAD v2:
2-179457681-A-G
gnomAD v3:
2-178592954-A-G
gnomAD v4:
2-178592954-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592954A>G , CM000664.2:g.178592954A>G | GRCh38 |
| NC_000002.11:g.179457681A>G , CM000664.1:g.179457681A>G | GRCh37 |
| NC_000002.10:g.179165927A>G | NCBI36 |
| NG_011618.3:g.242849T>C , LRG_391:g.242849T>C | |
| NG_051363.1:g.75128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51461T>C (TTN) | ENSP00000343764.6:p.Val17154Ala | |
| ENST00000342175.11:c.32546T>C (TTN) | ENSP00000340554.6:p.Val10849Ala | |
| ENST00000359218.10:c.32345T>C (TTN) | ENSP00000352154.5:p.Val10782Ala | |
| ENST00000342175.10:c.32546T>C (TTN) | ENSP00000340554.6:p.Val10849Ala | |
| ENST00000342992.10:c.51461T>C (TTN) | ENSP00000343764.6:p.Val17154Ala | |
| ENST00000359218.9:c.32345T>C (TTN) | ENSP00000352154.5:p.Val10782Ala | |
| ENST00000460472.6:c.31970T>C (TTN) | ENSP00000434586.1:p.Val10657Ala | |
| ENST00000589042.5:c.59165T>C (TTN) MANE Select | ENSP00000467141.1:p.Val19722Ala | |
| ENST00000591111.5:c.54242T>C (TTN) | ENSP00000465570.1:p.Val18081Ala | |
| ENST00000615779.4:c.54242T>C (TTN) | ENSP00000483597.1:p.Val18081Ala | |
| NM_001256850.1:c.54242T>C (TTN) | NP_001243779.1:p.Val18081Ala | |
| NM_001267550.2:c.59165T>C (TTN) MANE Select | NP_001254479.2:p.Val19722Ala | |
| NM_003319.4:c.31970T>C (TTN) | NP_003310.4:p.Val10657Ala | |
| NM_133378.4:c.51461T>C (TTN) | NP_596869.4:p.Val17154Ala | |
| NM_133432.3:c.32345T>C (TTN) | NP_597676.3:p.Val10782Ala | |
| NM_133437.4:c.32546T>C (TTN) | NP_597681.4:p.Val10849Ala | |
| NR_038271.1:n.597-4642A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+1640A>G (TTN-AS1) | ||
| XM_011511729.1:c.58262T>C (TTN) | XP_011510031.1:p.Val19421Ala | |
| XM_011511730.1:c.32156T>C (TTN) | XP_011510032.1:p.Val10719Ala | |
| XM_011511731.1:c.32015T>C (TTN) | XP_011510033.1:p.Val10672Ala | |
| XM_017004819.1:c.58058T>C (TTN) | XP_016860308.1:p.Val19353Ala | |
| XM_017004820.1:c.53456T>C (TTN) | XP_016860309.1:p.Val17819Ala | |
| XM_017004821.1:c.53453T>C (TTN) | XP_016860310.1:p.Val17818Ala | |
| XM_017004822.1:c.50495T>C (TTN) | XP_016860311.1:p.Val16832Ala | |
| XM_017004823.1:c.32111T>C (TTN) | XP_016860312.1:p.Val10704Ala | |
| XM_024453094.1:c.53606T>C (TTN) | XP_024308862.1:p.Val17869Ala | |
| XM_024453095.1:c.53603T>C (TTN) | XP_024308863.1:p.Val17868Ala | |
| XM_024453096.1:c.53036T>C (TTN) | XP_024308864.1:p.Val17679Ala | |
| XM_024453097.1:c.50378T>C (TTN) | XP_024308865.1:p.Val16793Ala | |
| XM_024453098.1:c.50297T>C (TTN) | XP_024308866.1:p.Val16766Ala | |
| XM_024453099.1:c.32060T>C (TTN) | XP_024308867.1:p.Val10687Ala | |
| XM_024453100.1:c.21914T>C (TTN) | XP_024308868.1:p.Val7305Ala |