Linked Data
ClinVar Variation Id:
47010
ClinVar RCV Id:
RCV000040280
RCV000225870
RCV000254435
RCV000343876
RCV000352447
RCV000308756
RCV000404240
RCV000392384
RCV000852855
RCV001083111
RCV001798152
dbSNP Id:
rs72677233
ExAC:
2:179482763 C / T
gnomAD v2:
2-179482763-C-T
gnomAD v3:
2-178618036-C-T
gnomAD v4:
2-178618036-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618036C>T , CM000664.2:g.178618036C>T | GRCh38 |
| NC_000002.11:g.179482763C>T , CM000664.1:g.179482763C>T | GRCh37 |
| NC_000002.10:g.179191008C>T | NCBI36 |
| NG_011618.3:g.217767G>A , LRG_391:g.217767G>A | |
| NG_051363.1:g.100210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39611G>A (TTN) | ENSP00000343764.6:p.Arg13204Gln | |
| ENST00000342175.11:c.20696G>A (TTN) | ENSP00000340554.6:p.Arg6899Gln | |
| ENST00000359218.10:c.20495G>A (TTN) | ENSP00000352154.5:p.Arg6832Gln | |
| ENST00000342175.10:c.20696G>A (TTN) | ENSP00000340554.6:p.Arg6899Gln | |
| ENST00000342992.10:c.39611G>A (TTN) | ENSP00000343764.6:p.Arg13204Gln | |
| ENST00000359218.9:c.20495G>A (TTN) | ENSP00000352154.5:p.Arg6832Gln | |
| ENST00000460472.6:c.20120G>A (TTN) | ENSP00000434586.1:p.Arg6707Gln | |
| ENST00000589042.5:c.47315G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg15772Gln | |
| ENST00000591111.5:c.42392G>A (TTN) | ENSP00000465570.1:p.Arg14131Gln | |
| ENST00000615779.4:c.42392G>A (TTN) | ENSP00000483597.1:p.Arg14131Gln | |
| NM_001256850.1:c.42392G>A (TTN) | NP_001243779.1:p.Arg14131Gln | |
| NM_001267550.2:c.47315G>A (TTN) MANE Select | NP_001254479.2:p.Arg15772Gln | |
| NM_003319.4:c.20120G>A (TTN) | NP_003310.4:p.Arg6707Gln | |
| NM_133378.4:c.39611G>A (TTN) | NP_596869.4:p.Arg13204Gln | |
| NM_133432.3:c.20495G>A (TTN) | NP_597676.3:p.Arg6832Gln | |
| NM_133437.4:c.20696G>A (TTN) | NP_597681.4:p.Arg6899Gln | |
| NR_038271.1:n.1605-1717C>T (TTN-AS1) | ||
| XM_011511729.1:c.46412G>A (TTN) | XP_011510031.1:p.Arg15471Gln | |
| XM_011511730.1:c.20306G>A (TTN) | XP_011510032.1:p.Arg6769Gln | |
| XM_011511731.1:c.20165G>A (TTN) | XP_011510033.1:p.Arg6722Gln | |
| XM_017004819.1:c.46208G>A (TTN) | XP_016860308.1:p.Arg15403Gln | |
| XM_017004820.1:c.41606G>A (TTN) | XP_016860309.1:p.Arg13869Gln | |
| XM_017004821.1:c.41603G>A (TTN) | XP_016860310.1:p.Arg13868Gln | |
| XM_017004822.1:c.38645G>A (TTN) | XP_016860311.1:p.Arg12882Gln | |
| XM_017004823.1:c.20261G>A (TTN) | XP_016860312.1:p.Arg6754Gln | |
| XM_024453094.1:c.41756G>A (TTN) | XP_024308862.1:p.Arg13919Gln | |
| XM_024453095.1:c.41753G>A (TTN) | XP_024308863.1:p.Arg13918Gln | |
| XM_024453096.1:c.41186G>A (TTN) | XP_024308864.1:p.Arg13729Gln | |
| XM_024453097.1:c.38528G>A (TTN) | XP_024308865.1:p.Arg12843Gln | |
| XM_024453098.1:c.38447G>A (TTN) | XP_024308866.1:p.Arg12816Gln | |
| XM_024453099.1:c.20210G>A (TTN) | XP_024308867.1:p.Arg6737Gln | |
| XM_024453100.1:c.10064G>A (TTN) | XP_024308868.1:p.Arg3355Gln |