Linked Data
ClinVar Variation Id:
47258
dbSNP Id:
rs144295295
ExAC:
2:179443797 C / G
gnomAD v2:
2-179443797-C-G
gnomAD v3:
2-178579070-C-G
gnomAD v4:
2-178579070-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579070C>G , CM000664.2:g.178579070C>G | GRCh38 |
| NC_000002.11:g.179443797C>G , CM000664.1:g.179443797C>G | GRCh37 |
| NC_000002.10:g.179152043C>G | NCBI36 |
| NG_011618.3:g.256733G>C , LRG_391:g.256733G>C | |
| NG_051363.1:g.61244C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60256G>C (TTN) | ENSP00000343764.6:p.Asp20086His | |
| ENST00000342175.11:c.41341G>C (TTN) | ENSP00000340554.6:p.Asp13781His | |
| ENST00000359218.10:c.41140G>C (TTN) | ENSP00000352154.5:p.Asp13714His | |
| ENST00000342175.10:c.41341G>C (TTN) | ENSP00000340554.6:p.Asp13781His | |
| ENST00000342992.10:c.60256G>C (TTN) | ENSP00000343764.6:p.Asp20086His | |
| ENST00000359218.9:c.41140G>C (TTN) | ENSP00000352154.5:p.Asp13714His | |
| ENST00000460472.6:c.40765G>C (TTN) | ENSP00000434586.1:p.Asp13589His | |
| ENST00000589042.5:c.67960G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp22654His | |
| ENST00000591111.5:c.63037G>C (TTN) | ENSP00000465570.1:p.Asp21013His | |
| ENST00000615779.4:c.63037G>C (TTN) | ENSP00000483597.1:p.Asp21013His | |
| NM_001256850.1:c.63037G>C (TTN) | NP_001243779.1:p.Asp21013His | |
| NM_001267550.2:c.67960G>C (TTN) MANE Select | NP_001254479.2:p.Asp22654His | |
| NM_003319.4:c.40765G>C (TTN) | NP_003310.4:p.Asp13589His | |
| NM_133378.4:c.60256G>C (TTN) | NP_596869.4:p.Asp20086His | |
| NM_133432.3:c.41140G>C (TTN) | NP_597676.3:p.Asp13714His | |
| NM_133437.4:c.41341G>C (TTN) | NP_597681.4:p.Asp13781His | |
| NR_038271.1:n.596+7621C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-3502C>G (TTN-AS1) | ||
| XM_011511729.1:c.67057G>C (TTN) | XP_011510031.1:p.Asp22353His | |
| XM_011511730.1:c.40951G>C (TTN) | XP_011510032.1:p.Asp13651His | |
| XM_011511731.1:c.40810G>C (TTN) | XP_011510033.1:p.Asp13604His | |
| XM_017004819.1:c.66853G>C (TTN) | XP_016860308.1:p.Asp22285His | |
| XM_017004820.1:c.62251G>C (TTN) | XP_016860309.1:p.Asp20751His | |
| XM_017004821.1:c.62248G>C (TTN) | XP_016860310.1:p.Asp20750His | |
| XM_017004822.1:c.59290G>C (TTN) | XP_016860311.1:p.Asp19764His | |
| XM_017004823.1:c.40906G>C (TTN) | XP_016860312.1:p.Asp13636His | |
| XM_024453094.1:c.62401G>C (TTN) | XP_024308862.1:p.Asp20801His | |
| XM_024453095.1:c.62398G>C (TTN) | XP_024308863.1:p.Asp20800His | |
| XM_024453096.1:c.61831G>C (TTN) | XP_024308864.1:p.Asp20611His | |
| XM_024453097.1:c.59173G>C (TTN) | XP_024308865.1:p.Asp19725His | |
| XM_024453098.1:c.59092G>C (TTN) | XP_024308866.1:p.Asp19698His | |
| XM_024453099.1:c.40855G>C (TTN) | XP_024308867.1:p.Asp13619His | |
| XM_024453100.1:c.30709G>C (TTN) | XP_024308868.1:p.Asp10237His |