Linked Data
ClinVar Variation Id:
47320
ClinVar RCV Id:
RCV000040590
RCV000253827
RCV000264085
RCV000322850
RCV000328591
RCV000377423
RCV000383061
RCV000474900
RCV000769950
RCV001703907
dbSNP Id:
rs182491843
ExAC:
2:179437691 T / C
gnomAD v2:
2-179437691-T-C
gnomAD v3:
2-178572964-T-C
gnomAD v4:
2-178572964-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572964T>C , CM000664.2:g.178572964T>C | GRCh38 |
| NC_000002.11:g.179437691T>C , CM000664.1:g.179437691T>C | GRCh37 |
| NC_000002.10:g.179145937T>C | NCBI36 |
| NG_011618.3:g.262839A>G , LRG_391:g.262839A>G | |
| NG_051363.1:g.55138T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65464A>G (TTN) | ENSP00000343764.6:p.Thr21822Ala | |
| ENST00000342175.11:c.46549A>G (TTN) | ENSP00000340554.6:p.Thr15517Ala | |
| ENST00000359218.10:c.46348A>G (TTN) | ENSP00000352154.5:p.Thr15450Ala | |
| ENST00000342175.10:c.46549A>G (TTN) | ENSP00000340554.6:p.Thr15517Ala | |
| ENST00000342992.10:c.65464A>G (TTN) | ENSP00000343764.6:p.Thr21822Ala | |
| ENST00000359218.9:c.46348A>G (TTN) | ENSP00000352154.5:p.Thr15450Ala | |
| ENST00000460472.6:c.45973A>G (TTN) | ENSP00000434586.1:p.Thr15325Ala | |
| ENST00000589042.5:c.73168A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr24390Ala | |
| ENST00000591111.5:c.68245A>G (TTN) | ENSP00000465570.1:p.Thr22749Ala | |
| ENST00000615779.4:c.68245A>G (TTN) | ENSP00000483597.1:p.Thr22749Ala | |
| NM_001256850.1:c.68245A>G (TTN) | NP_001243779.1:p.Thr22749Ala | |
| NM_001267550.2:c.73168A>G (TTN) MANE Select | NP_001254479.2:p.Thr24390Ala | |
| NM_003319.4:c.45973A>G (TTN) | NP_003310.4:p.Thr15325Ala | |
| NM_133378.4:c.65464A>G (TTN) | NP_596869.4:p.Thr21822Ala | |
| NM_133432.3:c.46348A>G (TTN) | NP_597676.3:p.Thr15450Ala | |
| NM_133437.4:c.46549A>G (TTN) | NP_597681.4:p.Thr15517Ala | |
| NR_038271.1:n.596+1515T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-9608T>C (TTN-AS1) | ||
| XM_011511729.1:c.72265A>G (TTN) | XP_011510031.1:p.Thr24089Ala | |
| XM_011511730.1:c.46159A>G (TTN) | XP_011510032.1:p.Thr15387Ala | |
| XM_011511731.1:c.46018A>G (TTN) | XP_011510033.1:p.Thr15340Ala | |
| XM_017004819.1:c.72061A>G (TTN) | XP_016860308.1:p.Thr24021Ala | |
| XM_017004820.1:c.67459A>G (TTN) | XP_016860309.1:p.Thr22487Ala | |
| XM_017004821.1:c.67456A>G (TTN) | XP_016860310.1:p.Thr22486Ala | |
| XM_017004822.1:c.64498A>G (TTN) | XP_016860311.1:p.Thr21500Ala | |
| XM_017004823.1:c.46114A>G (TTN) | XP_016860312.1:p.Thr15372Ala | |
| XM_024453094.1:c.67609A>G (TTN) | XP_024308862.1:p.Thr22537Ala | |
| XM_024453095.1:c.67606A>G (TTN) | XP_024308863.1:p.Thr22536Ala | |
| XM_024453096.1:c.67039A>G (TTN) | XP_024308864.1:p.Thr22347Ala | |
| XM_024453097.1:c.64381A>G (TTN) | XP_024308865.1:p.Thr21461Ala | |
| XM_024453098.1:c.64300A>G (TTN) | XP_024308866.1:p.Thr21434Ala | |
| XM_024453099.1:c.46063A>G (TTN) | XP_024308867.1:p.Thr15355Ala | |
| XM_024453100.1:c.35917A>G (TTN) | XP_024308868.1:p.Thr11973Ala |