Linked Data
ClinVar Variation Id:
191903
ClinVar RCV Id:
RCV000172264
RCV000282942
RCV000288822
RCV000248880
RCV000259146
RCV000379211
RCV000347355
RCV000404979
RCV000769955
RCV000852813
RCV001084205
RCV002227932
dbSNP Id:
rs56399205
ExAC:
2:179438713 A / G
gnomAD v2:
2-179438713-A-G
gnomAD v3:
2-178573986-A-G
gnomAD v4:
2-178573986-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573986A>G , CM000664.2:g.178573986A>G | GRCh38 |
| NC_000002.11:g.179438713A>G , CM000664.1:g.179438713A>G | GRCh37 |
| NC_000002.10:g.179146959A>G | NCBI36 |
| NG_011618.3:g.261817T>C , LRG_391:g.261817T>C | |
| NG_051363.1:g.56160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64442T>C (TTN) | ENSP00000343764.6:p.Leu21481Pro | |
| ENST00000342175.11:c.45527T>C (TTN) | ENSP00000340554.6:p.Leu15176Pro | |
| ENST00000359218.10:c.45326T>C (TTN) | ENSP00000352154.5:p.Leu15109Pro | |
| ENST00000342175.10:c.45527T>C (TTN) | ENSP00000340554.6:p.Leu15176Pro | |
| ENST00000342992.10:c.64442T>C (TTN) | ENSP00000343764.6:p.Leu21481Pro | |
| ENST00000359218.9:c.45326T>C (TTN) | ENSP00000352154.5:p.Leu15109Pro | |
| ENST00000460472.6:c.44951T>C (TTN) | ENSP00000434586.1:p.Leu14984Pro | |
| ENST00000589042.5:c.72146T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu24049Pro | |
| ENST00000591111.5:c.67223T>C (TTN) | ENSP00000465570.1:p.Leu22408Pro | |
| ENST00000615779.4:c.67223T>C (TTN) | ENSP00000483597.1:p.Leu22408Pro | |
| NM_001256850.1:c.67223T>C (TTN) | NP_001243779.1:p.Leu22408Pro | |
| NM_001267550.2:c.72146T>C (TTN) MANE Select | NP_001254479.2:p.Leu24049Pro | |
| NM_003319.4:c.44951T>C (TTN) | NP_003310.4:p.Leu14984Pro | |
| NM_133378.4:c.64442T>C (TTN) | NP_596869.4:p.Leu21481Pro | |
| NM_133432.3:c.45326T>C (TTN) | NP_597676.3:p.Leu15109Pro | |
| NM_133437.4:c.45527T>C (TTN) | NP_597681.4:p.Leu15176Pro | |
| NR_038271.1:n.596+2537A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8586A>G (TTN-AS1) | ||
| XM_011511729.1:c.71243T>C (TTN) | XP_011510031.1:p.Leu23748Pro | |
| XM_011511730.1:c.45137T>C (TTN) | XP_011510032.1:p.Leu15046Pro | |
| XM_011511731.1:c.44996T>C (TTN) | XP_011510033.1:p.Leu14999Pro | |
| XM_017004819.1:c.71039T>C (TTN) | XP_016860308.1:p.Leu23680Pro | |
| XM_017004820.1:c.66437T>C (TTN) | XP_016860309.1:p.Leu22146Pro | |
| XM_017004821.1:c.66434T>C (TTN) | XP_016860310.1:p.Leu22145Pro | |
| XM_017004822.1:c.63476T>C (TTN) | XP_016860311.1:p.Leu21159Pro | |
| XM_017004823.1:c.45092T>C (TTN) | XP_016860312.1:p.Leu15031Pro | |
| XM_024453094.1:c.66587T>C (TTN) | XP_024308862.1:p.Leu22196Pro | |
| XM_024453095.1:c.66584T>C (TTN) | XP_024308863.1:p.Leu22195Pro | |
| XM_024453096.1:c.66017T>C (TTN) | XP_024308864.1:p.Leu22006Pro | |
| XM_024453097.1:c.63359T>C (TTN) | XP_024308865.1:p.Leu21120Pro | |
| XM_024453098.1:c.63278T>C (TTN) | XP_024308866.1:p.Leu21093Pro | |
| XM_024453099.1:c.45041T>C (TTN) | XP_024308867.1:p.Leu15014Pro | |
| XM_024453100.1:c.34895T>C (TTN) | XP_024308868.1:p.Leu11632Pro |