Linked Data
ClinVar Variation Id:
202923
ClinVar RCV Id:
RCV000764309
RCV001129923
RCV001129925
RCV001134957
RCV001170780
RCV001704921
RCV001129924
RCV001129926
dbSNP Id:
rs752974639
ExAC:
2:179426474 C / A
gnomAD v2:
2-179426474-C-A
gnomAD v3:
2-178561747-C-A
gnomAD v4:
2-178561747-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561747C>A , CM000664.2:g.178561747C>A | GRCh38 |
| NC_000002.11:g.179426474C>A , CM000664.1:g.179426474C>A | GRCh37 |
| NC_000002.10:g.179134720C>A | NCBI36 |
| NG_011618.3:g.274056G>T , LRG_391:g.274056G>T | |
| NG_051363.1:g.43921C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76681G>T (TTN) | ENSP00000343764.6:p.Val25561Phe | |
| ENST00000342175.11:c.57766G>T (TTN) | ENSP00000340554.6:p.Val19256Phe | |
| ENST00000359218.10:c.57565G>T (TTN) | ENSP00000352154.5:p.Val19189Phe | |
| ENST00000342175.10:c.57766G>T (TTN) | ENSP00000340554.6:p.Val19256Phe | |
| ENST00000342992.10:c.76681G>T (TTN) | ENSP00000343764.6:p.Val25561Phe | |
| ENST00000359218.9:c.57565G>T (TTN) | ENSP00000352154.5:p.Val19189Phe | |
| ENST00000460472.6:c.57190G>T (TTN) | ENSP00000434586.1:p.Val19064Phe | |
| ENST00000589042.5:c.84385G>T (TTN) MANE Select | ENSP00000467141.1:p.Val28129Phe | |
| ENST00000591111.5:c.79462G>T (TTN) | ENSP00000465570.1:p.Val26488Phe | |
| ENST00000615779.4:c.79462G>T (TTN) | ENSP00000483597.1:p.Val26488Phe | |
| NM_001256850.1:c.79462G>T (TTN) | NP_001243779.1:p.Val26488Phe | |
| NM_001267550.2:c.84385G>T (TTN) MANE Select | NP_001254479.2:p.Val28129Phe | |
| NM_003319.4:c.57190G>T (TTN) | NP_003310.4:p.Val19064Phe | |
| NM_133378.4:c.76681G>T (TTN) | NP_596869.4:p.Val25561Phe | |
| NM_133432.3:c.57565G>T (TTN) | NP_597676.3:p.Val19189Phe | |
| NM_133437.4:c.57766G>T (TTN) | NP_597681.4:p.Val19256Phe | |
| NR_038271.1:n.447-9553C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+19386C>A (TTN-AS1) | ||
| XM_011511729.1:c.83482G>T (TTN) | XP_011510031.1:p.Val27828Phe | |
| XM_011511730.1:c.57376G>T (TTN) | XP_011510032.1:p.Val19126Phe | |
| XM_011511731.1:c.57235G>T (TTN) | XP_011510033.1:p.Val19079Phe | |
| XM_017004819.1:c.83278G>T (TTN) | XP_016860308.1:p.Val27760Phe | |
| XM_017004820.1:c.78676G>T (TTN) | XP_016860309.1:p.Val26226Phe | |
| XM_017004821.1:c.78673G>T (TTN) | XP_016860310.1:p.Val26225Phe | |
| XM_017004822.1:c.75715G>T (TTN) | XP_016860311.1:p.Val25239Phe | |
| XM_017004823.1:c.57331G>T (TTN) | XP_016860312.1:p.Val19111Phe | |
| XM_024453094.1:c.78826G>T (TTN) | XP_024308862.1:p.Val26276Phe | |
| XM_024453095.1:c.78823G>T (TTN) | XP_024308863.1:p.Val26275Phe | |
| XM_024453096.1:c.78256G>T (TTN) | XP_024308864.1:p.Val26086Phe | |
| XM_024453097.1:c.75598G>T (TTN) | XP_024308865.1:p.Val25200Phe | |
| XM_024453098.1:c.75517G>T (TTN) | XP_024308866.1:p.Val25173Phe | |
| XM_024453099.1:c.57280G>T (TTN) | XP_024308867.1:p.Val19094Phe | |
| XM_024453100.1:c.47134G>T (TTN) | XP_024308868.1:p.Val15712Phe |