Linked Data
ClinVar Variation Id:
47335
ClinVar RCV Id:
RCV000040605
RCV000464020
RCV001093053
RCV001134503
RCV001171268
RCV001135950
RCV001134502
RCV001134504
RCV001135951
RCV001293087
RCV002336148
RCV004534928
dbSNP Id:
rs368914555
ExAC:
2:179435825 G / A
gnomAD v2:
2-179435825-G-A
gnomAD v3:
2-178571098-G-A
gnomAD v4:
2-178571098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571098G>A , CM000664.2:g.178571098G>A | GRCh38 |
| NC_000002.11:g.179435825G>A , CM000664.1:g.179435825G>A | GRCh37 |
| NC_000002.10:g.179144071G>A | NCBI36 |
| NG_011618.3:g.264705C>T , LRG_391:g.264705C>T | |
| NG_051363.1:g.53272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67330C>T (TTN) | ENSP00000343764.6:p.Arg22444Trp | |
| ENST00000342175.11:c.48415C>T (TTN) | ENSP00000340554.6:p.Arg16139Trp | |
| ENST00000359218.10:c.48214C>T (TTN) | ENSP00000352154.5:p.Arg16072Trp | |
| ENST00000342175.10:c.48415C>T (TTN) | ENSP00000340554.6:p.Arg16139Trp | |
| ENST00000342992.10:c.67330C>T (TTN) | ENSP00000343764.6:p.Arg22444Trp | |
| ENST00000359218.9:c.48214C>T (TTN) | ENSP00000352154.5:p.Arg16072Trp | |
| ENST00000460472.6:c.47839C>T (TTN) | ENSP00000434586.1:p.Arg15947Trp | |
| ENST00000589042.5:c.75034C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg25012Trp | |
| ENST00000591111.5:c.70111C>T (TTN) | ENSP00000465570.1:p.Arg23371Trp | |
| ENST00000615779.4:c.70111C>T (TTN) | ENSP00000483597.1:p.Arg23371Trp | |
| NM_001256850.1:c.70111C>T (TTN) | NP_001243779.1:p.Arg23371Trp | |
| NM_001267550.2:c.75034C>T (TTN) MANE Select | NP_001254479.2:p.Arg25012Trp | |
| NM_003319.4:c.47839C>T (TTN) | NP_003310.4:p.Arg15947Trp | |
| NM_133378.4:c.67330C>T (TTN) | NP_596869.4:p.Arg22444Trp | |
| NM_133432.3:c.48214C>T (TTN) | NP_597676.3:p.Arg16072Trp | |
| NM_133437.4:c.48415C>T (TTN) | NP_597681.4:p.Arg16139Trp | |
| NR_038271.1:n.447-202G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11474G>A (TTN-AS1) | ||
| XM_011511729.1:c.74131C>T (TTN) | XP_011510031.1:p.Arg24711Trp | |
| XM_011511730.1:c.48025C>T (TTN) | XP_011510032.1:p.Arg16009Trp | |
| XM_011511731.1:c.47884C>T (TTN) | XP_011510033.1:p.Arg15962Trp | |
| XM_017004819.1:c.73927C>T (TTN) | XP_016860308.1:p.Arg24643Trp | |
| XM_017004820.1:c.69325C>T (TTN) | XP_016860309.1:p.Arg23109Trp | |
| XM_017004821.1:c.69322C>T (TTN) | XP_016860310.1:p.Arg23108Trp | |
| XM_017004822.1:c.66364C>T (TTN) | XP_016860311.1:p.Arg22122Trp | |
| XM_017004823.1:c.47980C>T (TTN) | XP_016860312.1:p.Arg15994Trp | |
| XM_024453094.1:c.69475C>T (TTN) | XP_024308862.1:p.Arg23159Trp | |
| XM_024453095.1:c.69472C>T (TTN) | XP_024308863.1:p.Arg23158Trp | |
| XM_024453096.1:c.68905C>T (TTN) | XP_024308864.1:p.Arg22969Trp | |
| XM_024453097.1:c.66247C>T (TTN) | XP_024308865.1:p.Arg22083Trp | |
| XM_024453098.1:c.66166C>T (TTN) | XP_024308866.1:p.Arg22056Trp | |
| XM_024453099.1:c.47929C>T (TTN) | XP_024308867.1:p.Arg15977Trp | |
| XM_024453100.1:c.37783C>T (TTN) | XP_024308868.1:p.Arg12595Trp |