Linked Data
ClinVar Variation Id:
496993
dbSNP Id:
rs72646892
ExAC:
2:179439995 C / T
gnomAD v2:
2-179439995-C-T
gnomAD v3:
2-178575268-C-T
gnomAD v4:
2-178575268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575268C>T , CM000664.2:g.178575268C>T | GRCh38 |
| NC_000002.11:g.179439995C>T , CM000664.1:g.179439995C>T | GRCh37 |
| NC_000002.10:g.179148241C>T | NCBI36 |
| NG_011618.3:g.260535G>A , LRG_391:g.260535G>A | |
| NG_051363.1:g.57442C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.63160G>A (TTN) | ENSP00000343764.6:p.Val21054Ile | |
| ENST00000342175.11:c.44245G>A (TTN) | ENSP00000340554.6:p.Val14749Ile | |
| ENST00000359218.10:c.44044G>A (TTN) | ENSP00000352154.5:p.Val14682Ile | |
| ENST00000342175.10:c.44245G>A (TTN) | ENSP00000340554.6:p.Val14749Ile | |
| ENST00000342992.10:c.63160G>A (TTN) | ENSP00000343764.6:p.Val21054Ile | |
| ENST00000359218.9:c.44044G>A (TTN) | ENSP00000352154.5:p.Val14682Ile | |
| ENST00000460472.6:c.43669G>A (TTN) | ENSP00000434586.1:p.Val14557Ile | |
| ENST00000589042.5:c.70864G>A (TTN) MANE Select | ENSP00000467141.1:p.Val23622Ile | |
| ENST00000591111.5:c.65941G>A (TTN) | ENSP00000465570.1:p.Val21981Ile | |
| ENST00000615779.4:c.65941G>A (TTN) | ENSP00000483597.1:p.Val21981Ile | |
| NM_001256850.1:c.65941G>A (TTN) | NP_001243779.1:p.Val21981Ile | |
| NM_001267550.2:c.70864G>A (TTN) MANE Select | NP_001254479.2:p.Val23622Ile | |
| NM_003319.4:c.43669G>A (TTN) | NP_003310.4:p.Val14557Ile | |
| NM_133378.4:c.63160G>A (TTN) | NP_596869.4:p.Val21054Ile | |
| NM_133432.3:c.44044G>A (TTN) | NP_597676.3:p.Val14682Ile | |
| NM_133437.4:c.44245G>A (TTN) | NP_597681.4:p.Val14749Ile | |
| NR_038271.1:n.596+3819C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7304C>T (TTN-AS1) | ||
| XM_011511729.1:c.69961G>A (TTN) | XP_011510031.1:p.Val23321Ile | |
| XM_011511730.1:c.43855G>A (TTN) | XP_011510032.1:p.Val14619Ile | |
| XM_011511731.1:c.43714G>A (TTN) | XP_011510033.1:p.Val14572Ile | |
| XM_017004819.1:c.69757G>A (TTN) | XP_016860308.1:p.Val23253Ile | |
| XM_017004820.1:c.65155G>A (TTN) | XP_016860309.1:p.Val21719Ile | |
| XM_017004821.1:c.65152G>A (TTN) | XP_016860310.1:p.Val21718Ile | |
| XM_017004822.1:c.62194G>A (TTN) | XP_016860311.1:p.Val20732Ile | |
| XM_017004823.1:c.43810G>A (TTN) | XP_016860312.1:p.Val14604Ile | |
| XM_024453094.1:c.65305G>A (TTN) | XP_024308862.1:p.Val21769Ile | |
| XM_024453095.1:c.65302G>A (TTN) | XP_024308863.1:p.Val21768Ile | |
| XM_024453096.1:c.64735G>A (TTN) | XP_024308864.1:p.Val21579Ile | |
| XM_024453097.1:c.62077G>A (TTN) | XP_024308865.1:p.Val20693Ile | |
| XM_024453098.1:c.61996G>A (TTN) | XP_024308866.1:p.Val20666Ile | |
| XM_024453099.1:c.43759G>A (TTN) | XP_024308867.1:p.Val14587Ile | |
| XM_024453100.1:c.33613G>A (TTN) | XP_024308868.1:p.Val11205Ile |