Linked Data
ClinVar Variation Id:
467190
ClinVar RCV Id:
RCV000535141
RCV001136069
RCV001136070
RCV001136073
RCV001136071
RCV001136072
RCV003139798
dbSNP Id:
rs764059405
ExAC:
2:179482072 C / G
gnomAD v2:
2-179482072-C-G
gnomAD v3:
2-178617345-C-G
gnomAD v4:
2-178617345-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617345C>G , CM000664.2:g.178617345C>G | GRCh38 |
| NC_000002.11:g.179482072C>G , CM000664.1:g.179482072C>G | GRCh37 |
| NC_000002.10:g.179190317C>G | NCBI36 |
| NG_011618.3:g.218458G>C , LRG_391:g.218458G>C | |
| NG_051363.1:g.99519C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40036G>C (TTN) | ENSP00000343764.6:p.Val13346Leu | |
| ENST00000342175.11:c.21121G>C (TTN) | ENSP00000340554.6:p.Val7041Leu | |
| ENST00000359218.10:c.20920G>C (TTN) | ENSP00000352154.5:p.Val6974Leu | |
| ENST00000342175.10:c.21121G>C (TTN) | ENSP00000340554.6:p.Val7041Leu | |
| ENST00000342992.10:c.40036G>C (TTN) | ENSP00000343764.6:p.Val13346Leu | |
| ENST00000359218.9:c.20920G>C (TTN) | ENSP00000352154.5:p.Val6974Leu | |
| ENST00000460472.6:c.20545G>C (TTN) | ENSP00000434586.1:p.Val6849Leu | |
| ENST00000589042.5:c.47740G>C (TTN) MANE Select | ENSP00000467141.1:p.Val15914Leu | |
| ENST00000591111.5:c.42817G>C (TTN) | ENSP00000465570.1:p.Val14273Leu | |
| ENST00000615779.4:c.42817G>C (TTN) | ENSP00000483597.1:p.Val14273Leu | |
| NM_001256850.1:c.42817G>C (TTN) | NP_001243779.1:p.Val14273Leu | |
| NM_001267550.2:c.47740G>C (TTN) MANE Select | NP_001254479.2:p.Val15914Leu | |
| NM_003319.4:c.20545G>C (TTN) | NP_003310.4:p.Val6849Leu | |
| NM_133378.4:c.40036G>C (TTN) | NP_596869.4:p.Val13346Leu | |
| NM_133432.3:c.20920G>C (TTN) | NP_597676.3:p.Val6974Leu | |
| NM_133437.4:c.21121G>C (TTN) | NP_597681.4:p.Val7041Leu | |
| NR_038271.1:n.1604+1971C>G (TTN-AS1) | ||
| XM_011511729.1:c.46837G>C (TTN) | XP_011510031.1:p.Val15613Leu | |
| XM_011511730.1:c.20731G>C (TTN) | XP_011510032.1:p.Val6911Leu | |
| XM_011511731.1:c.20590G>C (TTN) | XP_011510033.1:p.Val6864Leu | |
| XM_017004819.1:c.46633G>C (TTN) | XP_016860308.1:p.Val15545Leu | |
| XM_017004820.1:c.42031G>C (TTN) | XP_016860309.1:p.Val14011Leu | |
| XM_017004821.1:c.42028G>C (TTN) | XP_016860310.1:p.Val14010Leu | |
| XM_017004822.1:c.39070G>C (TTN) | XP_016860311.1:p.Val13024Leu | |
| XM_017004823.1:c.20686G>C (TTN) | XP_016860312.1:p.Val6896Leu | |
| XM_024453094.1:c.42181G>C (TTN) | XP_024308862.1:p.Val14061Leu | |
| XM_024453095.1:c.42178G>C (TTN) | XP_024308863.1:p.Val14060Leu | |
| XM_024453096.1:c.41611G>C (TTN) | XP_024308864.1:p.Val13871Leu | |
| XM_024453097.1:c.38953G>C (TTN) | XP_024308865.1:p.Val12985Leu | |
| XM_024453098.1:c.38872G>C (TTN) | XP_024308866.1:p.Val12958Leu | |
| XM_024453099.1:c.20635G>C (TTN) | XP_024308867.1:p.Val6879Leu | |
| XM_024453100.1:c.10489G>C (TTN) | XP_024308868.1:p.Val3497Leu |