Linked Data
ClinVar Variation Id:
47219
dbSNP Id:
rs397517660
ExAC:
2:179449091 C / T
gnomAD v2:
2-179449091-C-T
gnomAD v3:
2-178584364-C-T
gnomAD v4:
2-178584364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584364C>T , CM000664.2:g.178584364C>T | GRCh38 |
| NC_000002.11:g.179449091C>T , CM000664.1:g.179449091C>T | GRCh37 |
| NC_000002.10:g.179157337C>T | NCBI36 |
| NG_011618.3:g.251439G>A , LRG_391:g.251439G>A | |
| NG_051363.1:g.66538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57483G>A (TTN) | ENSP00000343764.6:p.Glu19161= | |
| ENST00000342175.11:c.38568G>A (TTN) | ENSP00000340554.6:p.Glu12856= | |
| ENST00000359218.10:c.38367G>A (TTN) | ENSP00000352154.5:p.Glu12789= | |
| ENST00000342175.10:c.38568G>A (TTN) | ENSP00000340554.6:p.Glu12856= | |
| ENST00000342992.10:c.57483G>A (TTN) | ENSP00000343764.6:p.Glu19161= | |
| ENST00000359218.9:c.38367G>A (TTN) | ENSP00000352154.5:p.Glu12789= | |
| ENST00000460472.6:c.37992G>A (TTN) | ENSP00000434586.1:p.Glu12664= | |
| ENST00000589042.5:c.65187G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu21729= | |
| ENST00000591111.5:c.60264G>A (TTN) | ENSP00000465570.1:p.Glu20088= | |
| ENST00000615779.4:c.60264G>A (TTN) | ENSP00000483597.1:p.Glu20088= | |
| NM_001256850.1:c.60264G>A (TTN) | NP_001243779.1:p.Glu20088= | |
| NM_001267550.2:c.65187G>A (TTN) MANE Select | NP_001254479.2:p.Glu21729= | |
| NM_003319.4:c.37992G>A (TTN) | NP_003310.4:p.Glu12664= | |
| NM_133378.4:c.57483G>A (TTN) | NP_596869.4:p.Glu19161= | |
| NM_133432.3:c.38367G>A (TTN) | NP_597676.3:p.Glu12789= | |
| NM_133437.4:c.38568G>A (TTN) | NP_597681.4:p.Glu12856= | |
| NR_038271.1:n.596+12915C>T (TTN-AS1) | ||
| NR_038272.1:n.2768-209C>T (TTN-AS1) | ||
| XM_011511729.1:c.64284G>A (TTN) | XP_011510031.1:p.Glu21428= | |
| XM_011511730.1:c.38178G>A (TTN) | XP_011510032.1:p.Glu12726= | |
| XM_011511731.1:c.38037G>A (TTN) | XP_011510033.1:p.Glu12679= | |
| XM_017004819.1:c.64080G>A (TTN) | XP_016860308.1:p.Glu21360= | |
| XM_017004820.1:c.59478G>A (TTN) | XP_016860309.1:p.Glu19826= | |
| XM_017004821.1:c.59475G>A (TTN) | XP_016860310.1:p.Glu19825= | |
| XM_017004822.1:c.56517G>A (TTN) | XP_016860311.1:p.Glu18839= | |
| XM_017004823.1:c.38133G>A (TTN) | XP_016860312.1:p.Glu12711= | |
| XM_024453094.1:c.59628G>A (TTN) | XP_024308862.1:p.Glu19876= | |
| XM_024453095.1:c.59625G>A (TTN) | XP_024308863.1:p.Glu19875= | |
| XM_024453096.1:c.59058G>A (TTN) | XP_024308864.1:p.Glu19686= | |
| XM_024453097.1:c.56400G>A (TTN) | XP_024308865.1:p.Glu18800= | |
| XM_024453098.1:c.56319G>A (TTN) | XP_024308866.1:p.Glu18773= | |
| XM_024453099.1:c.38082G>A (TTN) | XP_024308867.1:p.Glu12694= | |
| XM_024453100.1:c.27936G>A (TTN) | XP_024308868.1:p.Glu9312= |