Linked Data
ClinVar Variation Id:
47066
ClinVar RCV Id:
RCV000040336
RCV000118765
RCV000852845
RCV001129509
RCV001136507
RCV001084228
RCV001129508
RCV001129510
RCV001129511
RCV002426577
RCV004534905
RCV001798159
dbSNP Id:
rs201213901
ExAC:
2:179472662 G / A
gnomAD v2:
2-179472662-G-A
gnomAD v3:
2-178607935-G-A
gnomAD v4:
2-178607935-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607935G>A , CM000664.2:g.178607935G>A | GRCh38 |
| NC_000002.11:g.179472662G>A , CM000664.1:g.179472662G>A | GRCh37 |
| NC_000002.10:g.179180907G>A | NCBI36 |
| NG_011618.3:g.227868C>T , LRG_391:g.227868C>T | |
| NG_051363.1:g.90109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45148C>T (TTN) | ENSP00000343764.6:p.Arg15050Cys | |
| ENST00000342175.11:c.26233C>T (TTN) | ENSP00000340554.6:p.Arg8745Cys | |
| ENST00000359218.10:c.26032C>T (TTN) | ENSP00000352154.5:p.Arg8678Cys | |
| ENST00000342175.10:c.26233C>T (TTN) | ENSP00000340554.6:p.Arg8745Cys | |
| ENST00000342992.10:c.45148C>T (TTN) | ENSP00000343764.6:p.Arg15050Cys | |
| ENST00000359218.9:c.26032C>T (TTN) | ENSP00000352154.5:p.Arg8678Cys | |
| ENST00000460472.6:c.25657C>T (TTN) | ENSP00000434586.1:p.Arg8553Cys | |
| ENST00000589042.5:c.52852C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg17618Cys | |
| ENST00000591111.5:c.47929C>T (TTN) | ENSP00000465570.1:p.Arg15977Cys | |
| ENST00000615779.4:c.47929C>T (TTN) | ENSP00000483597.1:p.Arg15977Cys | |
| NM_001256850.1:c.47929C>T (TTN) | NP_001243779.1:p.Arg15977Cys | |
| NM_001267550.2:c.52852C>T (TTN) MANE Select | NP_001254479.2:p.Arg17618Cys | |
| NM_003319.4:c.25657C>T (TTN) | NP_003310.4:p.Arg8553Cys | |
| NM_133378.4:c.45148C>T (TTN) | NP_596869.4:p.Arg15050Cys | |
| NM_133432.3:c.26032C>T (TTN) | NP_597676.3:p.Arg8678Cys | |
| NM_133437.4:c.26233C>T (TTN) | NP_597681.4:p.Arg8745Cys | |
| NR_038271.1:n.683-232G>A (TTN-AS1) | ||
| XM_011511729.1:c.51949C>T (TTN) | XP_011510031.1:p.Arg17317Cys | |
| XM_011511730.1:c.25843C>T (TTN) | XP_011510032.1:p.Arg8615Cys | |
| XM_011511731.1:c.25702C>T (TTN) | XP_011510033.1:p.Arg8568Cys | |
| XM_017004819.1:c.51745C>T (TTN) | XP_016860308.1:p.Arg17249Cys | |
| XM_017004820.1:c.47143C>T (TTN) | XP_016860309.1:p.Arg15715Cys | |
| XM_017004821.1:c.47140C>T (TTN) | XP_016860310.1:p.Arg15714Cys | |
| XM_017004822.1:c.44182C>T (TTN) | XP_016860311.1:p.Arg14728Cys | |
| XM_017004823.1:c.25798C>T (TTN) | XP_016860312.1:p.Arg8600Cys | |
| XM_024453094.1:c.47293C>T (TTN) | XP_024308862.1:p.Arg15765Cys | |
| XM_024453095.1:c.47290C>T (TTN) | XP_024308863.1:p.Arg15764Cys | |
| XM_024453096.1:c.46723C>T (TTN) | XP_024308864.1:p.Arg15575Cys | |
| XM_024453097.1:c.44065C>T (TTN) | XP_024308865.1:p.Arg14689Cys | |
| XM_024453098.1:c.43984C>T (TTN) | XP_024308866.1:p.Arg14662Cys | |
| XM_024453099.1:c.25747C>T (TTN) | XP_024308867.1:p.Arg8583Cys | |
| XM_024453100.1:c.15601C>T (TTN) | XP_024308868.1:p.Arg5201Cys |