Linked Data
ClinVar Variation Id:
516916
dbSNP Id:
rs111262307
ExAC:
2:179464372 C / T
gnomAD v2:
2-179464372-C-T
gnomAD v3:
2-178599645-C-T
gnomAD v4:
2-178599645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599645C>T , CM000664.2:g.178599645C>T | GRCh38 |
| NC_000002.11:g.179464372C>T , CM000664.1:g.179464372C>T | GRCh37 |
| NC_000002.10:g.179172617C>T | NCBI36 |
| NG_011618.3:g.236158G>A , LRG_391:g.236158G>A | |
| NG_051363.1:g.81819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48552G>A (TTN) | ENSP00000343764.6:p.Pro16184= | |
| ENST00000342175.11:c.29637G>A (TTN) | ENSP00000340554.6:p.Pro9879= | |
| ENST00000359218.10:c.29436G>A (TTN) | ENSP00000352154.5:p.Pro9812= | |
| ENST00000342175.10:c.29637G>A (TTN) | ENSP00000340554.6:p.Pro9879= | |
| ENST00000342992.10:c.48552G>A (TTN) | ENSP00000343764.6:p.Pro16184= | |
| ENST00000359218.9:c.29436G>A (TTN) | ENSP00000352154.5:p.Pro9812= | |
| ENST00000460472.6:c.29061G>A (TTN) | ENSP00000434586.1:p.Pro9687= | |
| ENST00000589042.5:c.56256G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro18752= | |
| ENST00000591111.5:c.51333G>A (TTN) | ENSP00000465570.1:p.Pro17111= | |
| ENST00000615779.4:c.51333G>A (TTN) | ENSP00000483597.1:p.Pro17111= | |
| NM_001256850.1:c.51333G>A (TTN) | NP_001243779.1:p.Pro17111= | |
| NM_001267550.2:c.56256G>A (TTN) MANE Select | NP_001254479.2:p.Pro18752= | |
| NM_003319.4:c.29061G>A (TTN) | NP_003310.4:p.Pro9687= | |
| NM_133378.4:c.48552G>A (TTN) | NP_596869.4:p.Pro16184= | |
| NM_133432.3:c.29436G>A (TTN) | NP_597676.3:p.Pro9812= | |
| NM_133437.4:c.29637G>A (TTN) | NP_597681.4:p.Pro9879= | |
| NR_038271.1:n.682+1964C>T (TTN-AS1) | ||
| NR_038272.1:n.3620C>T (TTN-AS1) | ||
| XM_011511729.1:c.55353G>A (TTN) | XP_011510031.1:p.Pro18451= | |
| XM_011511730.1:c.29247G>A (TTN) | XP_011510032.1:p.Pro9749= | |
| XM_011511731.1:c.29106G>A (TTN) | XP_011510033.1:p.Pro9702= | |
| XM_017004819.1:c.55149G>A (TTN) | XP_016860308.1:p.Pro18383= | |
| XM_017004820.1:c.50547G>A (TTN) | XP_016860309.1:p.Pro16849= | |
| XM_017004821.1:c.50544G>A (TTN) | XP_016860310.1:p.Pro16848= | |
| XM_017004822.1:c.47586G>A (TTN) | XP_016860311.1:p.Pro15862= | |
| XM_017004823.1:c.29202G>A (TTN) | XP_016860312.1:p.Pro9734= | |
| XM_024453094.1:c.50697G>A (TTN) | XP_024308862.1:p.Pro16899= | |
| XM_024453095.1:c.50694G>A (TTN) | XP_024308863.1:p.Pro16898= | |
| XM_024453096.1:c.50127G>A (TTN) | XP_024308864.1:p.Pro16709= | |
| XM_024453097.1:c.47469G>A (TTN) | XP_024308865.1:p.Pro15823= | |
| XM_024453098.1:c.47388G>A (TTN) | XP_024308866.1:p.Pro15796= | |
| XM_024453099.1:c.29151G>A (TTN) | XP_024308867.1:p.Pro9717= | |
| XM_024453100.1:c.19005G>A (TTN) | XP_024308868.1:p.Pro6335= |