Linked Data
ClinVar Variation Id:
195796
ClinVar RCV Id:
RCV000194014
RCV000619752
RCV000724413
RCV001131032
RCV001130335
RCV001078673
RCV001130337
RCV001130338
RCV003150048
RCV001130336
dbSNP Id:
rs529480368
ExAC:
2:179463985 C / T
gnomAD v2:
2-179463985-C-T
gnomAD v3:
2-178599258-C-T
gnomAD v4:
2-178599258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599258C>T , CM000664.2:g.178599258C>T | GRCh38 |
| NC_000002.11:g.179463985C>T , CM000664.1:g.179463985C>T | GRCh37 |
| NC_000002.10:g.179172230C>T | NCBI36 |
| NG_011618.3:g.236545G>A , LRG_391:g.236545G>A | |
| NG_051363.1:g.81432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48831G>A (TTN) | ENSP00000343764.6:p.Thr16277= | |
| ENST00000342175.11:c.29916G>A (TTN) | ENSP00000340554.6:p.Thr9972= | |
| ENST00000359218.10:c.29715G>A (TTN) | ENSP00000352154.5:p.Thr9905= | |
| ENST00000342175.10:c.29916G>A (TTN) | ENSP00000340554.6:p.Thr9972= | |
| ENST00000342992.10:c.48831G>A (TTN) | ENSP00000343764.6:p.Thr16277= | |
| ENST00000359218.9:c.29715G>A (TTN) | ENSP00000352154.5:p.Thr9905= | |
| ENST00000460472.6:c.29340G>A (TTN) | ENSP00000434586.1:p.Thr9780= | |
| ENST00000589042.5:c.56535G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr18845= | |
| ENST00000591111.5:c.51612G>A (TTN) | ENSP00000465570.1:p.Thr17204= | |
| ENST00000615779.4:c.51612G>A (TTN) | ENSP00000483597.1:p.Thr17204= | |
| NM_001256850.1:c.51612G>A (TTN) | NP_001243779.1:p.Thr17204= | |
| NM_001267550.2:c.56535G>A (TTN) MANE Select | NP_001254479.2:p.Thr18845= | |
| NM_003319.4:c.29340G>A (TTN) | NP_003310.4:p.Thr9780= | |
| NM_133378.4:c.48831G>A (TTN) | NP_596869.4:p.Thr16277= | |
| NM_133432.3:c.29715G>A (TTN) | NP_597676.3:p.Thr9905= | |
| NM_133437.4:c.29916G>A (TTN) | NP_597681.4:p.Thr9972= | |
| NR_038271.1:n.682+1577C>T (TTN-AS1) | ||
| NR_038272.1:n.3569-336C>T (TTN-AS1) | ||
| XM_011511729.1:c.55632G>A (TTN) | XP_011510031.1:p.Thr18544= | |
| XM_011511730.1:c.29526G>A (TTN) | XP_011510032.1:p.Thr9842= | |
| XM_011511731.1:c.29385G>A (TTN) | XP_011510033.1:p.Thr9795= | |
| XM_017004819.1:c.55428G>A (TTN) | XP_016860308.1:p.Thr18476= | |
| XM_017004820.1:c.50826G>A (TTN) | XP_016860309.1:p.Thr16942= | |
| XM_017004821.1:c.50823G>A (TTN) | XP_016860310.1:p.Thr16941= | |
| XM_017004822.1:c.47865G>A (TTN) | XP_016860311.1:p.Thr15955= | |
| XM_017004823.1:c.29481G>A (TTN) | XP_016860312.1:p.Thr9827= | |
| XM_024453094.1:c.50976G>A (TTN) | XP_024308862.1:p.Thr16992= | |
| XM_024453095.1:c.50973G>A (TTN) | XP_024308863.1:p.Thr16991= | |
| XM_024453096.1:c.50406G>A (TTN) | XP_024308864.1:p.Thr16802= | |
| XM_024453097.1:c.47748G>A (TTN) | XP_024308865.1:p.Thr15916= | |
| XM_024453098.1:c.47667G>A (TTN) | XP_024308866.1:p.Thr15889= | |
| XM_024453099.1:c.29430G>A (TTN) | XP_024308867.1:p.Thr9810= | |
| XM_024453100.1:c.19284G>A (TTN) | XP_024308868.1:p.Thr6428= |