Linked Data
ClinVar Variation Id:
47573
ClinVar RCV Id:
RCV000040842
RCV000466836
RCV001133971
RCV001170753
RCV001528947
RCV001133972
RCV001133973
RCV001133974
RCV001133975
RCV002371848
dbSNP Id:
rs72648266
ExAC:
2:179407663 G / A
gnomAD v2:
2-179407663-G-A
gnomAD v3:
2-178542936-G-A
gnomAD v4:
2-178542936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542936G>A , CM000664.2:g.178542936G>A | GRCh38 |
| NC_000002.11:g.179407663G>A , CM000664.1:g.179407663G>A | GRCh37 |
| NC_000002.10:g.179115909G>A | NCBI36 |
| NG_011618.3:g.292867C>T , LRG_391:g.292867C>T | |
| NG_051363.1:g.25110G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89214C>T (TTN) | ENSP00000343764.6:p.Ile29738= | |
| ENST00000342175.11:c.70299C>T (TTN) | ENSP00000340554.6:p.Ile23433= | |
| ENST00000359218.10:c.70098C>T (TTN) | ENSP00000352154.5:p.Ile23366= | |
| ENST00000342175.10:c.70299C>T (TTN) | ENSP00000340554.6:p.Ile23433= | |
| ENST00000342992.10:c.89214C>T (TTN) | ENSP00000343764.6:p.Ile29738= | |
| ENST00000359218.9:c.70098C>T (TTN) | ENSP00000352154.5:p.Ile23366= | |
| ENST00000460472.6:c.69723C>T (TTN) | ENSP00000434586.1:p.Ile23241= | |
| ENST00000589042.5:c.96918C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile32306= | |
| ENST00000591111.5:c.91995C>T (TTN) | ENSP00000465570.1:p.Ile30665= | |
| ENST00000615779.4:c.91995C>T (TTN) | ENSP00000483597.1:p.Ile30665= | |
| NM_001256850.1:c.91995C>T (TTN) | NP_001243779.1:p.Ile30665= | |
| NM_001267550.2:c.96918C>T (TTN) MANE Select | NP_001254479.2:p.Ile32306= | |
| NM_003319.4:c.69723C>T (TTN) | NP_003310.4:p.Ile23241= | |
| NM_133378.4:c.89214C>T (TTN) | NP_596869.4:p.Ile29738= | |
| NM_133432.3:c.70098C>T (TTN) | NP_597676.3:p.Ile23366= | |
| NM_133437.4:c.70299C>T (TTN) | NP_597681.4:p.Ile23433= | |
| NR_038271.1:n.446+19300G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+575G>A (TTN-AS1) | ||
| XM_011511729.1:c.96015C>T (TTN) | XP_011510031.1:p.Ile32005= | |
| XM_011511730.1:c.69909C>T (TTN) | XP_011510032.1:p.Ile23303= | |
| XM_011511731.1:c.69768C>T (TTN) | XP_011510033.1:p.Ile23256= | |
| XM_017004819.1:c.95811C>T (TTN) | XP_016860308.1:p.Ile31937= | |
| XM_017004820.1:c.91209C>T (TTN) | XP_016860309.1:p.Ile30403= | |
| XM_017004821.1:c.91206C>T (TTN) | XP_016860310.1:p.Ile30402= | |
| XM_017004822.1:c.88248C>T (TTN) | XP_016860311.1:p.Ile29416= | |
| XM_017004823.1:c.69864C>T (TTN) | XP_016860312.1:p.Ile23288= | |
| XM_024453094.1:c.91359C>T (TTN) | XP_024308862.1:p.Ile30453= | |
| XM_024453095.1:c.91356C>T (TTN) | XP_024308863.1:p.Ile30452= | |
| XM_024453096.1:c.90789C>T (TTN) | XP_024308864.1:p.Ile30263= | |
| XM_024453097.1:c.88131C>T (TTN) | XP_024308865.1:p.Ile29377= | |
| XM_024453098.1:c.88050C>T (TTN) | XP_024308866.1:p.Ile29350= | |
| XM_024453099.1:c.69813C>T (TTN) | XP_024308867.1:p.Ile23271= | |
| XM_024453100.1:c.59667C>T (TTN) | XP_024308868.1:p.Ile19889= |