Linked Data
ClinVar Variation Id:
130682
ClinVar RCV Id:
RCV000118783
RCV000471248
RCV001129406
RCV001132116
RCV001129404
RCV000769934
RCV001727579
RCV001129405
RCV001132115
RCV002345423
RCV004542863
dbSNP Id:
rs55892928
ExAC:
2:179430537 G / A
gnomAD v2:
2-179430537-G-A
gnomAD v3:
2-178565810-G-A
gnomAD v4:
2-178565810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565810G>A , CM000664.2:g.178565810G>A | GRCh38 |
| NC_000002.11:g.179430537G>A , CM000664.1:g.179430537G>A | GRCh37 |
| NC_000002.10:g.179138783G>A | NCBI36 |
| NG_011618.3:g.269993C>T , LRG_391:g.269993C>T | |
| NG_051363.1:g.47984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72618C>T (TTN) | ENSP00000343764.6:p.Ala24206= | |
| ENST00000342175.11:c.53703C>T (TTN) | ENSP00000340554.6:p.Ala17901= | |
| ENST00000359218.10:c.53502C>T (TTN) | ENSP00000352154.5:p.Ala17834= | |
| ENST00000342175.10:c.53703C>T (TTN) | ENSP00000340554.6:p.Ala17901= | |
| ENST00000342992.10:c.72618C>T (TTN) | ENSP00000343764.6:p.Ala24206= | |
| ENST00000359218.9:c.53502C>T (TTN) | ENSP00000352154.5:p.Ala17834= | |
| ENST00000460472.6:c.53127C>T (TTN) | ENSP00000434586.1:p.Ala17709= | |
| ENST00000589042.5:c.80322C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala26774= | |
| ENST00000591111.5:c.75399C>T (TTN) | ENSP00000465570.1:p.Ala25133= | |
| ENST00000615779.4:c.75399C>T (TTN) | ENSP00000483597.1:p.Ala25133= | |
| NM_001256850.1:c.75399C>T (TTN) | NP_001243779.1:p.Ala25133= | |
| NM_001267550.2:c.80322C>T (TTN) MANE Select | NP_001254479.2:p.Ala26774= | |
| NM_003319.4:c.53127C>T (TTN) | NP_003310.4:p.Ala17709= | |
| NM_133378.4:c.72618C>T (TTN) | NP_596869.4:p.Ala24206= | |
| NM_133432.3:c.53502C>T (TTN) | NP_597676.3:p.Ala17834= | |
| NM_133437.4:c.53703C>T (TTN) | NP_597681.4:p.Ala17901= | |
| NR_038271.1:n.447-5490G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16762G>A (TTN-AS1) | ||
| XM_011511729.1:c.79419C>T (TTN) | XP_011510031.1:p.Ala26473= | |
| XM_011511730.1:c.53313C>T (TTN) | XP_011510032.1:p.Ala17771= | |
| XM_011511731.1:c.53172C>T (TTN) | XP_011510033.1:p.Ala17724= | |
| XM_017004819.1:c.79215C>T (TTN) | XP_016860308.1:p.Ala26405= | |
| XM_017004820.1:c.74613C>T (TTN) | XP_016860309.1:p.Ala24871= | |
| XM_017004821.1:c.74610C>T (TTN) | XP_016860310.1:p.Ala24870= | |
| XM_017004822.1:c.71652C>T (TTN) | XP_016860311.1:p.Ala23884= | |
| XM_017004823.1:c.53268C>T (TTN) | XP_016860312.1:p.Ala17756= | |
| XM_024453094.1:c.74763C>T (TTN) | XP_024308862.1:p.Ala24921= | |
| XM_024453095.1:c.74760C>T (TTN) | XP_024308863.1:p.Ala24920= | |
| XM_024453096.1:c.74193C>T (TTN) | XP_024308864.1:p.Ala24731= | |
| XM_024453097.1:c.71535C>T (TTN) | XP_024308865.1:p.Ala23845= | |
| XM_024453098.1:c.71454C>T (TTN) | XP_024308866.1:p.Ala23818= | |
| XM_024453099.1:c.53217C>T (TTN) | XP_024308867.1:p.Ala17739= | |
| XM_024453100.1:c.43071C>T (TTN) | XP_024308868.1:p.Ala14357= |