Linked Data
ClinVar Variation Id:
47007
ClinVar RCV Id:
RCV000040277
RCV000206445
RCV000283374
RCV000253777
RCV000291644
RCV000343176
RCV000346585
RCV000382285
RCV000769010
RCV001081905
RCV004541157
dbSNP Id:
rs72677231
ExAC:
2:179482994 G / A
gnomAD v2:
2-179482994-G-A
gnomAD v3:
2-178618267-G-A
gnomAD v4:
2-178618267-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618267G>A , CM000664.2:g.178618267G>A | GRCh38 |
| NC_000002.11:g.179482994G>A , CM000664.1:g.179482994G>A | GRCh37 |
| NC_000002.10:g.179191239G>A | NCBI36 |
| NG_011618.3:g.217536C>T , LRG_391:g.217536C>T | |
| NG_051363.1:g.100441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39487C>T (TTN) | ENSP00000343764.6:p.Arg13163Cys | |
| ENST00000342175.11:c.20572C>T (TTN) | ENSP00000340554.6:p.Arg6858Cys | |
| ENST00000359218.10:c.20371C>T (TTN) | ENSP00000352154.5:p.Arg6791Cys | |
| ENST00000342175.10:c.20572C>T (TTN) | ENSP00000340554.6:p.Arg6858Cys | |
| ENST00000342992.10:c.39487C>T (TTN) | ENSP00000343764.6:p.Arg13163Cys | |
| ENST00000359218.9:c.20371C>T (TTN) | ENSP00000352154.5:p.Arg6791Cys | |
| ENST00000460472.6:c.19996C>T (TTN) | ENSP00000434586.1:p.Arg6666Cys | |
| ENST00000589042.5:c.47191C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg15731Cys | |
| ENST00000591111.5:c.42268C>T (TTN) | ENSP00000465570.1:p.Arg14090Cys | |
| ENST00000615779.4:c.42268C>T (TTN) | ENSP00000483597.1:p.Arg14090Cys | |
| NM_001256850.1:c.42268C>T (TTN) | NP_001243779.1:p.Arg14090Cys | |
| NM_001267550.2:c.47191C>T (TTN) MANE Select | NP_001254479.2:p.Arg15731Cys | |
| NM_003319.4:c.19996C>T (TTN) | NP_003310.4:p.Arg6666Cys | |
| NM_133378.4:c.39487C>T (TTN) | NP_596869.4:p.Arg13163Cys | |
| NM_133432.3:c.20371C>T (TTN) | NP_597676.3:p.Arg6791Cys | |
| NM_133437.4:c.20572C>T (TTN) | NP_597681.4:p.Arg6858Cys | |
| NR_038271.1:n.1605-1486G>A (TTN-AS1) | ||
| XM_011511729.1:c.46288C>T (TTN) | XP_011510031.1:p.Arg15430Cys | |
| XM_011511730.1:c.20182C>T (TTN) | XP_011510032.1:p.Arg6728Cys | |
| XM_011511731.1:c.20041C>T (TTN) | XP_011510033.1:p.Arg6681Cys | |
| XM_017004819.1:c.46084C>T (TTN) | XP_016860308.1:p.Arg15362Cys | |
| XM_017004820.1:c.41482C>T (TTN) | XP_016860309.1:p.Arg13828Cys | |
| XM_017004821.1:c.41479C>T (TTN) | XP_016860310.1:p.Arg13827Cys | |
| XM_017004822.1:c.38521C>T (TTN) | XP_016860311.1:p.Arg12841Cys | |
| XM_017004823.1:c.20137C>T (TTN) | XP_016860312.1:p.Arg6713Cys | |
| XM_024453094.1:c.41632C>T (TTN) | XP_024308862.1:p.Arg13878Cys | |
| XM_024453095.1:c.41629C>T (TTN) | XP_024308863.1:p.Arg13877Cys | |
| XM_024453096.1:c.41062C>T (TTN) | XP_024308864.1:p.Arg13688Cys | |
| XM_024453097.1:c.38404C>T (TTN) | XP_024308865.1:p.Arg12802Cys | |
| XM_024453098.1:c.38323C>T (TTN) | XP_024308866.1:p.Arg12775Cys | |
| XM_024453099.1:c.20086C>T (TTN) | XP_024308867.1:p.Arg6696Cys | |
| XM_024453100.1:c.9940C>T (TTN) | XP_024308868.1:p.Arg3314Cys |