Linked Data
dbSNP Id:
rs530027314
ExAC:
2:179402301 A / T
gnomAD v2:
2-179402301-A-T
gnomAD v3:
2-178537574-A-T
gnomAD v4:
2-178537574-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537574A>T , CM000664.2:g.178537574A>T | GRCh38 |
| NC_000002.11:g.179402301A>T , CM000664.1:g.179402301A>T | GRCh37 |
| NC_000002.10:g.179110547A>T | NCBI36 |
| NG_011618.3:g.298229T>A , LRG_391:g.298229T>A | |
| NG_051363.1:g.19748A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91929T>A (TTN) | ENSP00000343764.6:p.Gly30643= | |
| ENST00000342175.11:c.73014T>A (TTN) | ENSP00000340554.6:p.Gly24338= | |
| ENST00000359218.10:c.72813T>A (TTN) | ENSP00000352154.5:p.Gly24271= | |
| ENST00000342175.10:c.73014T>A (TTN) | ENSP00000340554.6:p.Gly24338= | |
| ENST00000342992.10:c.91929T>A (TTN) | ENSP00000343764.6:p.Gly30643= | |
| ENST00000359218.9:c.72813T>A (TTN) | ENSP00000352154.5:p.Gly24271= | |
| ENST00000460472.6:c.72438T>A (TTN) | ENSP00000434586.1:p.Gly24146= | |
| ENST00000589042.5:c.99633T>A (TTN) MANE Select | ENSP00000467141.1:p.Gly33211= | |
| ENST00000591111.5:c.94710T>A (TTN) | ENSP00000465570.1:p.Gly31570= | |
| ENST00000615779.4:c.94710T>A (TTN) | ENSP00000483597.1:p.Gly31570= | |
| NM_001256850.1:c.94710T>A (TTN) | NP_001243779.1:p.Gly31570= | |
| NM_001267550.2:c.99633T>A (TTN) MANE Select | NP_001254479.2:p.Gly33211= | |
| NM_003319.4:c.72438T>A (TTN) | NP_003310.4:p.Gly24146= | |
| NM_133378.4:c.91929T>A (TTN) | NP_596869.4:p.Gly30643= | |
| NM_133432.3:c.72813T>A (TTN) | NP_597676.3:p.Gly24271= | |
| NM_133437.4:c.73014T>A (TTN) | NP_597681.4:p.Gly24338= | |
| NR_038271.1:n.446+13938A>T (TTN-AS1) | ||
| NR_038272.1:n.530A>T (TTN-AS1) | ||
| XM_011511729.1:c.98730T>A (TTN) | XP_011510031.1:p.Gly32910= | |
| XM_011511730.1:c.72624T>A (TTN) | XP_011510032.1:p.Gly24208= | |
| XM_011511731.1:c.72483T>A (TTN) | XP_011510033.1:p.Gly24161= | |
| XM_017004819.1:c.98526T>A (TTN) | XP_016860308.1:p.Gly32842= | |
| XM_017004820.1:c.93924T>A (TTN) | XP_016860309.1:p.Gly31308= | |
| XM_017004821.1:c.93921T>A (TTN) | XP_016860310.1:p.Gly31307= | |
| XM_017004822.1:c.90963T>A (TTN) | XP_016860311.1:p.Gly30321= | |
| XM_017004823.1:c.72579T>A (TTN) | XP_016860312.1:p.Gly24193= | |
| XM_024453094.1:c.94074T>A (TTN) | XP_024308862.1:p.Gly31358= | |
| XM_024453095.1:c.94071T>A (TTN) | XP_024308863.1:p.Gly31357= | |
| XM_024453096.1:c.93504T>A (TTN) | XP_024308864.1:p.Gly31168= | |
| XM_024453097.1:c.90846T>A (TTN) | XP_024308865.1:p.Gly30282= | |
| XM_024453098.1:c.90765T>A (TTN) | XP_024308866.1:p.Gly30255= | |
| XM_024453099.1:c.72528T>A (TTN) | XP_024308867.1:p.Gly24176= | |
| XM_024453100.1:c.62382T>A (TTN) | XP_024308868.1:p.Gly20794= |