Linked Data
ClinVar Variation Id:
332764
ClinVar RCV Id:
RCV000262837
RCV000318137
RCV000351987
RCV002348079
RCV002521346
RCV000372731
RCV000387307
dbSNP Id:
rs539234338
ExAC:
2:179429955 G / A
gnomAD v2:
2-179429955-G-A
gnomAD v3:
2-178565228-G-A
gnomAD v4:
2-178565228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565228G>A , CM000664.2:g.178565228G>A | GRCh38 |
| NC_000002.11:g.179429955G>A , CM000664.1:g.179429955G>A | GRCh37 |
| NC_000002.10:g.179138201G>A | NCBI36 |
| NG_011618.3:g.270575C>T , LRG_391:g.270575C>T | |
| NG_051363.1:g.47402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73200C>T (TTN) | ENSP00000343764.6:p.Ile24400= | |
| ENST00000342175.11:c.54285C>T (TTN) | ENSP00000340554.6:p.Ile18095= | |
| ENST00000359218.10:c.54084C>T (TTN) | ENSP00000352154.5:p.Ile18028= | |
| ENST00000342175.10:c.54285C>T (TTN) | ENSP00000340554.6:p.Ile18095= | |
| ENST00000342992.10:c.73200C>T (TTN) | ENSP00000343764.6:p.Ile24400= | |
| ENST00000359218.9:c.54084C>T (TTN) | ENSP00000352154.5:p.Ile18028= | |
| ENST00000460472.6:c.53709C>T (TTN) | ENSP00000434586.1:p.Ile17903= | |
| ENST00000589042.5:c.80904C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile26968= | |
| ENST00000591111.5:c.75981C>T (TTN) | ENSP00000465570.1:p.Ile25327= | |
| ENST00000615779.4:c.75981C>T (TTN) | ENSP00000483597.1:p.Ile25327= | |
| NM_001256850.1:c.75981C>T (TTN) | NP_001243779.1:p.Ile25327= | |
| NM_001267550.2:c.80904C>T (TTN) MANE Select | NP_001254479.2:p.Ile26968= | |
| NM_003319.4:c.53709C>T (TTN) | NP_003310.4:p.Ile17903= | |
| NM_133378.4:c.73200C>T (TTN) | NP_596869.4:p.Ile24400= | |
| NM_133432.3:c.54084C>T (TTN) | NP_597676.3:p.Ile18028= | |
| NM_133437.4:c.54285C>T (TTN) | NP_597681.4:p.Ile18095= | |
| NR_038271.1:n.447-6072G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17344G>A (TTN-AS1) | ||
| XM_011511729.1:c.80001C>T (TTN) | XP_011510031.1:p.Ile26667= | |
| XM_011511730.1:c.53895C>T (TTN) | XP_011510032.1:p.Ile17965= | |
| XM_011511731.1:c.53754C>T (TTN) | XP_011510033.1:p.Ile17918= | |
| XM_017004819.1:c.79797C>T (TTN) | XP_016860308.1:p.Ile26599= | |
| XM_017004820.1:c.75195C>T (TTN) | XP_016860309.1:p.Ile25065= | |
| XM_017004821.1:c.75192C>T (TTN) | XP_016860310.1:p.Ile25064= | |
| XM_017004822.1:c.72234C>T (TTN) | XP_016860311.1:p.Ile24078= | |
| XM_017004823.1:c.53850C>T (TTN) | XP_016860312.1:p.Ile17950= | |
| XM_024453094.1:c.75345C>T (TTN) | XP_024308862.1:p.Ile25115= | |
| XM_024453095.1:c.75342C>T (TTN) | XP_024308863.1:p.Ile25114= | |
| XM_024453096.1:c.74775C>T (TTN) | XP_024308864.1:p.Ile24925= | |
| XM_024453097.1:c.72117C>T (TTN) | XP_024308865.1:p.Ile24039= | |
| XM_024453098.1:c.72036C>T (TTN) | XP_024308866.1:p.Ile24012= | |
| XM_024453099.1:c.53799C>T (TTN) | XP_024308867.1:p.Ile17933= | |
| XM_024453100.1:c.43653C>T (TTN) | XP_024308868.1:p.Ile14551= |