Linked Data
ClinVar Variation Id:
165874
ClinVar RCV Id:
RCV000152241
RCV000727192
RCV001089296
RCV001128746
RCV001128743
RCV001128744
RCV001128745
RCV001128747
RCV002321630
dbSNP Id:
rs727503575
ExAC:
2:179443549 A / T
gnomAD v2:
2-179443549-A-T
gnomAD v3:
2-178578822-A-T
gnomAD v4:
2-178578822-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578822A>T , CM000664.2:g.178578822A>T | GRCh38 |
| NC_000002.11:g.179443549A>T , CM000664.1:g.179443549A>T | GRCh37 |
| NC_000002.10:g.179151795A>T | NCBI36 |
| NG_011618.3:g.256981T>A , LRG_391:g.256981T>A | |
| NG_051363.1:g.60996A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60504T>A (TTN) | ENSP00000343764.6:p.Val20168= | |
| ENST00000342175.11:c.41589T>A (TTN) | ENSP00000340554.6:p.Val13863= | |
| ENST00000359218.10:c.41388T>A (TTN) | ENSP00000352154.5:p.Val13796= | |
| ENST00000342175.10:c.41589T>A (TTN) | ENSP00000340554.6:p.Val13863= | |
| ENST00000342992.10:c.60504T>A (TTN) | ENSP00000343764.6:p.Val20168= | |
| ENST00000359218.9:c.41388T>A (TTN) | ENSP00000352154.5:p.Val13796= | |
| ENST00000460472.6:c.41013T>A (TTN) | ENSP00000434586.1:p.Val13671= | |
| ENST00000589042.5:c.68208T>A (TTN) MANE Select | ENSP00000467141.1:p.Val22736= | |
| ENST00000591111.5:c.63285T>A (TTN) | ENSP00000465570.1:p.Val21095= | |
| ENST00000615779.4:c.63285T>A (TTN) | ENSP00000483597.1:p.Val21095= | |
| NM_001256850.1:c.63285T>A (TTN) | NP_001243779.1:p.Val21095= | |
| NM_001267550.2:c.68208T>A (TTN) MANE Select | NP_001254479.2:p.Val22736= | |
| NM_003319.4:c.41013T>A (TTN) | NP_003310.4:p.Val13671= | |
| NM_133378.4:c.60504T>A (TTN) | NP_596869.4:p.Val20168= | |
| NM_133432.3:c.41388T>A (TTN) | NP_597676.3:p.Val13796= | |
| NM_133437.4:c.41589T>A (TTN) | NP_597681.4:p.Val13863= | |
| NR_038271.1:n.596+7373A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3750A>T (TTN-AS1) | ||
| XM_011511729.1:c.67305T>A (TTN) | XP_011510031.1:p.Val22435= | |
| XM_011511730.1:c.41199T>A (TTN) | XP_011510032.1:p.Val13733= | |
| XM_011511731.1:c.41058T>A (TTN) | XP_011510033.1:p.Val13686= | |
| XM_017004819.1:c.67101T>A (TTN) | XP_016860308.1:p.Val22367= | |
| XM_017004820.1:c.62499T>A (TTN) | XP_016860309.1:p.Val20833= | |
| XM_017004821.1:c.62496T>A (TTN) | XP_016860310.1:p.Val20832= | |
| XM_017004822.1:c.59538T>A (TTN) | XP_016860311.1:p.Val19846= | |
| XM_017004823.1:c.41154T>A (TTN) | XP_016860312.1:p.Val13718= | |
| XM_024453094.1:c.62649T>A (TTN) | XP_024308862.1:p.Val20883= | |
| XM_024453095.1:c.62646T>A (TTN) | XP_024308863.1:p.Val20882= | |
| XM_024453096.1:c.62079T>A (TTN) | XP_024308864.1:p.Val20693= | |
| XM_024453097.1:c.59421T>A (TTN) | XP_024308865.1:p.Val19807= | |
| XM_024453098.1:c.59340T>A (TTN) | XP_024308866.1:p.Val19780= | |
| XM_024453099.1:c.41103T>A (TTN) | XP_024308867.1:p.Val13701= | |
| XM_024453100.1:c.30957T>A (TTN) | XP_024308868.1:p.Val10319= |