Linked Data
ClinVar Variation Id:
178168
dbSNP Id:
rs370894846
ExAC:
2:179412372 G / C
gnomAD v2:
2-179412372-G-C
gnomAD v3:
2-178547645-G-C
gnomAD v4:
2-178547645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547645G>C , CM000664.2:g.178547645G>C | GRCh38 |
| NC_000002.11:g.179412372G>C , CM000664.1:g.179412372G>C | GRCh37 |
| NC_000002.10:g.179120618G>C | NCBI36 |
| NG_011618.3:g.288158C>G , LRG_391:g.288158C>G | |
| NG_051363.1:g.29819G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86277C>G (TTN) | ENSP00000343764.6:p.Val28759= | |
| ENST00000342175.11:c.67362C>G (TTN) | ENSP00000340554.6:p.Val22454= | |
| ENST00000359218.10:c.67161C>G (TTN) | ENSP00000352154.5:p.Val22387= | |
| ENST00000342175.10:c.67362C>G (TTN) | ENSP00000340554.6:p.Val22454= | |
| ENST00000342992.10:c.86277C>G (TTN) | ENSP00000343764.6:p.Val28759= | |
| ENST00000359218.9:c.67161C>G (TTN) | ENSP00000352154.5:p.Val22387= | |
| ENST00000460472.6:c.66786C>G (TTN) | ENSP00000434586.1:p.Val22262= | |
| ENST00000589042.5:c.93981C>G (TTN) MANE Select | ENSP00000467141.1:p.Val31327= | |
| ENST00000591111.5:c.89058C>G (TTN) | ENSP00000465570.1:p.Val29686= | |
| ENST00000615779.4:c.89058C>G (TTN) | ENSP00000483597.1:p.Val29686= | |
| NM_001256850.1:c.89058C>G (TTN) | NP_001243779.1:p.Val29686= | |
| NM_001267550.2:c.93981C>G (TTN) MANE Select | NP_001254479.2:p.Val31327= | |
| NM_003319.4:c.66786C>G (TTN) | NP_003310.4:p.Val22262= | |
| NM_133378.4:c.86277C>G (TTN) | NP_596869.4:p.Val28759= | |
| NM_133432.3:c.67161C>G (TTN) | NP_597676.3:p.Val22387= | |
| NM_133437.4:c.67362C>G (TTN) | NP_597681.4:p.Val22454= | |
| NR_038271.1:n.447-23655G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+5284G>C (TTN-AS1) | ||
| XM_011511729.1:c.93078C>G (TTN) | XP_011510031.1:p.Val31026= | |
| XM_011511730.1:c.66972C>G (TTN) | XP_011510032.1:p.Val22324= | |
| XM_011511731.1:c.66831C>G (TTN) | XP_011510033.1:p.Val22277= | |
| XM_017004819.1:c.92874C>G (TTN) | XP_016860308.1:p.Val30958= | |
| XM_017004820.1:c.88272C>G (TTN) | XP_016860309.1:p.Val29424= | |
| XM_017004821.1:c.88269C>G (TTN) | XP_016860310.1:p.Val29423= | |
| XM_017004822.1:c.85311C>G (TTN) | XP_016860311.1:p.Val28437= | |
| XM_017004823.1:c.66927C>G (TTN) | XP_016860312.1:p.Val22309= | |
| XM_024453094.1:c.88422C>G (TTN) | XP_024308862.1:p.Val29474= | |
| XM_024453095.1:c.88419C>G (TTN) | XP_024308863.1:p.Val29473= | |
| XM_024453096.1:c.87852C>G (TTN) | XP_024308864.1:p.Val29284= | |
| XM_024453097.1:c.85194C>G (TTN) | XP_024308865.1:p.Val28398= | |
| XM_024453098.1:c.85113C>G (TTN) | XP_024308866.1:p.Val28371= | |
| XM_024453099.1:c.66876C>G (TTN) | XP_024308867.1:p.Val22292= | |
| XM_024453100.1:c.56730C>G (TTN) | XP_024308868.1:p.Val18910= |