Linked Data
ClinVar Variation Id:
191870
ClinVar RCV Id:
RCV000172223
RCV000302023
RCV000271594
RCV000277611
RCV000308136
RCV000346588
RCV000362784
RCV001170553
RCV001082315
RCV002354439
RCV004539586
dbSNP Id:
rs192152102
ExAC:
2:179425988 G / A
gnomAD v2:
2-179425988-G-A
gnomAD v3:
2-178561261-G-A
gnomAD v4:
2-178561261-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561261G>A , CM000664.2:g.178561261G>A | GRCh38 |
| NC_000002.11:g.179425988G>A , CM000664.1:g.179425988G>A | GRCh37 |
| NC_000002.10:g.179134234G>A | NCBI36 |
| NG_011618.3:g.274542C>T , LRG_391:g.274542C>T | |
| NG_051363.1:g.43435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77167C>T (TTN) | ENSP00000343764.6:p.Arg25723Cys | |
| ENST00000342175.11:c.58252C>T (TTN) | ENSP00000340554.6:p.Arg19418Cys | |
| ENST00000359218.10:c.58051C>T (TTN) | ENSP00000352154.5:p.Arg19351Cys | |
| ENST00000342175.10:c.58252C>T (TTN) | ENSP00000340554.6:p.Arg19418Cys | |
| ENST00000342992.10:c.77167C>T (TTN) | ENSP00000343764.6:p.Arg25723Cys | |
| ENST00000359218.9:c.58051C>T (TTN) | ENSP00000352154.5:p.Arg19351Cys | |
| ENST00000460472.6:c.57676C>T (TTN) | ENSP00000434586.1:p.Arg19226Cys | |
| ENST00000589042.5:c.84871C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28291Cys | |
| ENST00000591111.5:c.79948C>T (TTN) | ENSP00000465570.1:p.Arg26650Cys | |
| ENST00000615779.4:c.79948C>T (TTN) | ENSP00000483597.1:p.Arg26650Cys | |
| NM_001256850.1:c.79948C>T (TTN) | NP_001243779.1:p.Arg26650Cys | |
| NM_001267550.2:c.84871C>T (TTN) MANE Select | NP_001254479.2:p.Arg28291Cys | |
| NM_003319.4:c.57676C>T (TTN) | NP_003310.4:p.Arg19226Cys | |
| NM_133378.4:c.77167C>T (TTN) | NP_596869.4:p.Arg25723Cys | |
| NM_133432.3:c.58051C>T (TTN) | NP_597676.3:p.Arg19351Cys | |
| NM_133437.4:c.58252C>T (TTN) | NP_597681.4:p.Arg19418Cys | |
| NR_038271.1:n.447-10039G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18900G>A (TTN-AS1) | ||
| XM_011511729.1:c.83968C>T (TTN) | XP_011510031.1:p.Arg27990Cys | |
| XM_011511730.1:c.57862C>T (TTN) | XP_011510032.1:p.Arg19288Cys | |
| XM_011511731.1:c.57721C>T (TTN) | XP_011510033.1:p.Arg19241Cys | |
| XM_017004819.1:c.83764C>T (TTN) | XP_016860308.1:p.Arg27922Cys | |
| XM_017004820.1:c.79162C>T (TTN) | XP_016860309.1:p.Arg26388Cys | |
| XM_017004821.1:c.79159C>T (TTN) | XP_016860310.1:p.Arg26387Cys | |
| XM_017004822.1:c.76201C>T (TTN) | XP_016860311.1:p.Arg25401Cys | |
| XM_017004823.1:c.57817C>T (TTN) | XP_016860312.1:p.Arg19273Cys | |
| XM_024453094.1:c.79312C>T (TTN) | XP_024308862.1:p.Arg26438Cys | |
| XM_024453095.1:c.79309C>T (TTN) | XP_024308863.1:p.Arg26437Cys | |
| XM_024453096.1:c.78742C>T (TTN) | XP_024308864.1:p.Arg26248Cys | |
| XM_024453097.1:c.76084C>T (TTN) | XP_024308865.1:p.Arg25362Cys | |
| XM_024453098.1:c.76003C>T (TTN) | XP_024308866.1:p.Arg25335Cys | |
| XM_024453099.1:c.57766C>T (TTN) | XP_024308867.1:p.Arg19256Cys | |
| XM_024453100.1:c.47620C>T (TTN) | XP_024308868.1:p.Arg15874Cys |