Linked Data
ClinVar Variation Id:
165946
ClinVar RCV Id:
RCV000152274
RCV000172300
RCV000306594
RCV000314770
RCV000366954
RCV000621257
RCV000363653
RCV000399359
RCV001170367
RCV001083650
RCV004532696
dbSNP Id:
rs201505306
ExAC:
2:179458894 C / T
gnomAD v2:
2-179458894-C-T
gnomAD v3:
2-178594167-C-T
gnomAD v4:
2-178594167-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594167C>T , CM000664.2:g.178594167C>T | GRCh38 |
| NC_000002.11:g.179458894C>T , CM000664.1:g.179458894C>T | GRCh37 |
| NC_000002.10:g.179167140C>T | NCBI36 |
| NG_011618.3:g.241636G>A , LRG_391:g.241636G>A | |
| NG_051363.1:g.76341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50522G>A (TTN) | ENSP00000343764.6:p.Arg16841His | |
| ENST00000342175.11:c.31607G>A (TTN) | ENSP00000340554.6:p.Arg10536His | |
| ENST00000359218.10:c.31406G>A (TTN) | ENSP00000352154.5:p.Arg10469His | |
| ENST00000342175.10:c.31607G>A (TTN) | ENSP00000340554.6:p.Arg10536His | |
| ENST00000342992.10:c.50522G>A (TTN) | ENSP00000343764.6:p.Arg16841His | |
| ENST00000359218.9:c.31406G>A (TTN) | ENSP00000352154.5:p.Arg10469His | |
| ENST00000460472.6:c.31031G>A (TTN) | ENSP00000434586.1:p.Arg10344His | |
| ENST00000589042.5:c.58226G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19409His | |
| ENST00000591111.5:c.53303G>A (TTN) | ENSP00000465570.1:p.Arg17768His | |
| ENST00000615779.4:c.53303G>A (TTN) | ENSP00000483597.1:p.Arg17768His | |
| NM_001256850.1:c.53303G>A (TTN) | NP_001243779.1:p.Arg17768His | |
| NM_001267550.2:c.58226G>A (TTN) MANE Select | NP_001254479.2:p.Arg19409His | |
| NM_003319.4:c.31031G>A (TTN) | NP_003310.4:p.Arg10344His | |
| NM_133378.4:c.50522G>A (TTN) | NP_596869.4:p.Arg16841His | |
| NM_133432.3:c.31406G>A (TTN) | NP_597676.3:p.Arg10469His | |
| NM_133437.4:c.31607G>A (TTN) | NP_597681.4:p.Arg10536His | |
| NR_038271.1:n.597-3429C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2853C>T (TTN-AS1) | ||
| XM_011511729.1:c.57323G>A (TTN) | XP_011510031.1:p.Arg19108His | |
| XM_011511730.1:c.31217G>A (TTN) | XP_011510032.1:p.Arg10406His | |
| XM_011511731.1:c.31076G>A (TTN) | XP_011510033.1:p.Arg10359His | |
| XM_017004819.1:c.57119G>A (TTN) | XP_016860308.1:p.Arg19040His | |
| XM_017004820.1:c.52517G>A (TTN) | XP_016860309.1:p.Arg17506His | |
| XM_017004821.1:c.52514G>A (TTN) | XP_016860310.1:p.Arg17505His | |
| XM_017004822.1:c.49556G>A (TTN) | XP_016860311.1:p.Arg16519His | |
| XM_017004823.1:c.31172G>A (TTN) | XP_016860312.1:p.Arg10391His | |
| XM_024453094.1:c.52667G>A (TTN) | XP_024308862.1:p.Arg17556His | |
| XM_024453095.1:c.52664G>A (TTN) | XP_024308863.1:p.Arg17555His | |
| XM_024453096.1:c.52097G>A (TTN) | XP_024308864.1:p.Arg17366His | |
| XM_024453097.1:c.49439G>A (TTN) | XP_024308865.1:p.Arg16480His | |
| XM_024453098.1:c.49358G>A (TTN) | XP_024308866.1:p.Arg16453His | |
| XM_024453099.1:c.31121G>A (TTN) | XP_024308867.1:p.Arg10374His | |
| XM_024453100.1:c.20975G>A (TTN) | XP_024308868.1:p.Arg6992His |