Linked Data
ClinVar Variation Id:
262330
ClinVar RCV Id:
RCV000250102
RCV001078621
RCV001135842
RCV001135843
RCV001128849
RCV002321936
RCV000725846
RCV001135844
RCV001135845
dbSNP Id:
rs72646877
ExAC:
2:179443798 A / G
gnomAD v2:
2-179443798-A-G
gnomAD v3:
2-178579071-A-G
gnomAD v4:
2-178579071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579071A>G , CM000664.2:g.178579071A>G | GRCh38 |
| NC_000002.11:g.179443798A>G , CM000664.1:g.179443798A>G | GRCh37 |
| NC_000002.10:g.179152044A>G | NCBI36 |
| NG_011618.3:g.256732T>C , LRG_391:g.256732T>C | |
| NG_051363.1:g.61245A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60255T>C (TTN) | ENSP00000343764.6:p.Phe20085= | |
| ENST00000342175.11:c.41340T>C (TTN) | ENSP00000340554.6:p.Phe13780= | |
| ENST00000359218.10:c.41139T>C (TTN) | ENSP00000352154.5:p.Phe13713= | |
| ENST00000342175.10:c.41340T>C (TTN) | ENSP00000340554.6:p.Phe13780= | |
| ENST00000342992.10:c.60255T>C (TTN) | ENSP00000343764.6:p.Phe20085= | |
| ENST00000359218.9:c.41139T>C (TTN) | ENSP00000352154.5:p.Phe13713= | |
| ENST00000460472.6:c.40764T>C (TTN) | ENSP00000434586.1:p.Phe13588= | |
| ENST00000589042.5:c.67959T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe22653= | |
| ENST00000591111.5:c.63036T>C (TTN) | ENSP00000465570.1:p.Phe21012= | |
| ENST00000615779.4:c.63036T>C (TTN) | ENSP00000483597.1:p.Phe21012= | |
| NM_001256850.1:c.63036T>C (TTN) | NP_001243779.1:p.Phe21012= | |
| NM_001267550.2:c.67959T>C (TTN) MANE Select | NP_001254479.2:p.Phe22653= | |
| NM_003319.4:c.40764T>C (TTN) | NP_003310.4:p.Phe13588= | |
| NM_133378.4:c.60255T>C (TTN) | NP_596869.4:p.Phe20085= | |
| NM_133432.3:c.41139T>C (TTN) | NP_597676.3:p.Phe13713= | |
| NM_133437.4:c.41340T>C (TTN) | NP_597681.4:p.Phe13780= | |
| NR_038271.1:n.596+7622A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-3501A>G (TTN-AS1) | ||
| XM_011511729.1:c.67056T>C (TTN) | XP_011510031.1:p.Phe22352= | |
| XM_011511730.1:c.40950T>C (TTN) | XP_011510032.1:p.Phe13650= | |
| XM_011511731.1:c.40809T>C (TTN) | XP_011510033.1:p.Phe13603= | |
| XM_017004819.1:c.66852T>C (TTN) | XP_016860308.1:p.Phe22284= | |
| XM_017004820.1:c.62250T>C (TTN) | XP_016860309.1:p.Phe20750= | |
| XM_017004821.1:c.62247T>C (TTN) | XP_016860310.1:p.Phe20749= | |
| XM_017004822.1:c.59289T>C (TTN) | XP_016860311.1:p.Phe19763= | |
| XM_017004823.1:c.40905T>C (TTN) | XP_016860312.1:p.Phe13635= | |
| XM_024453094.1:c.62400T>C (TTN) | XP_024308862.1:p.Phe20800= | |
| XM_024453095.1:c.62397T>C (TTN) | XP_024308863.1:p.Phe20799= | |
| XM_024453096.1:c.61830T>C (TTN) | XP_024308864.1:p.Phe20610= | |
| XM_024453097.1:c.59172T>C (TTN) | XP_024308865.1:p.Phe19724= | |
| XM_024453098.1:c.59091T>C (TTN) | XP_024308866.1:p.Phe19697= | |
| XM_024453099.1:c.40854T>C (TTN) | XP_024308867.1:p.Phe13618= | |
| XM_024453100.1:c.30708T>C (TTN) | XP_024308868.1:p.Phe10236= |