Linked Data
ClinVar Variation Id:
47442
ClinVar RCV Id:
RCV000040711
RCV000247193
RCV000335949
RCV000305618
RCV000341787
RCV000406632
RCV000391984
RCV000477567
RCV000726282
RCV001170551
dbSNP Id:
rs200843338
ExAC:
2:179425882 C / T
gnomAD v2:
2-179425882-C-T
gnomAD v3:
2-178561155-C-T
gnomAD v4:
2-178561155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561155C>T , CM000664.2:g.178561155C>T | GRCh38 |
| NC_000002.11:g.179425882C>T , CM000664.1:g.179425882C>T | GRCh37 |
| NC_000002.10:g.179134128C>T | NCBI36 |
| NG_011618.3:g.274648G>A , LRG_391:g.274648G>A | |
| NG_051363.1:g.43329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77273G>A (TTN) | ENSP00000343764.6:p.Arg25758Gln | |
| ENST00000342175.11:c.58358G>A (TTN) | ENSP00000340554.6:p.Arg19453Gln | |
| ENST00000359218.10:c.58157G>A (TTN) | ENSP00000352154.5:p.Arg19386Gln | |
| ENST00000342175.10:c.58358G>A (TTN) | ENSP00000340554.6:p.Arg19453Gln | |
| ENST00000342992.10:c.77273G>A (TTN) | ENSP00000343764.6:p.Arg25758Gln | |
| ENST00000359218.9:c.58157G>A (TTN) | ENSP00000352154.5:p.Arg19386Gln | |
| ENST00000460472.6:c.57782G>A (TTN) | ENSP00000434586.1:p.Arg19261Gln | |
| ENST00000589042.5:c.84977G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28326Gln | |
| ENST00000591111.5:c.80054G>A (TTN) | ENSP00000465570.1:p.Arg26685Gln | |
| ENST00000615779.4:c.80054G>A (TTN) | ENSP00000483597.1:p.Arg26685Gln | |
| NM_001256850.1:c.80054G>A (TTN) | NP_001243779.1:p.Arg26685Gln | |
| NM_001267550.2:c.84977G>A (TTN) MANE Select | NP_001254479.2:p.Arg28326Gln | |
| NM_003319.4:c.57782G>A (TTN) | NP_003310.4:p.Arg19261Gln | |
| NM_133378.4:c.77273G>A (TTN) | NP_596869.4:p.Arg25758Gln | |
| NM_133432.3:c.58157G>A (TTN) | NP_597676.3:p.Arg19386Gln | |
| NM_133437.4:c.58358G>A (TTN) | NP_597681.4:p.Arg19453Gln | |
| NR_038271.1:n.447-10145C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18794C>T (TTN-AS1) | ||
| XM_011511729.1:c.84074G>A (TTN) | XP_011510031.1:p.Arg28025Gln | |
| XM_011511730.1:c.57968G>A (TTN) | XP_011510032.1:p.Arg19323Gln | |
| XM_011511731.1:c.57827G>A (TTN) | XP_011510033.1:p.Arg19276Gln | |
| XM_017004819.1:c.83870G>A (TTN) | XP_016860308.1:p.Arg27957Gln | |
| XM_017004820.1:c.79268G>A (TTN) | XP_016860309.1:p.Arg26423Gln | |
| XM_017004821.1:c.79265G>A (TTN) | XP_016860310.1:p.Arg26422Gln | |
| XM_017004822.1:c.76307G>A (TTN) | XP_016860311.1:p.Arg25436Gln | |
| XM_017004823.1:c.57923G>A (TTN) | XP_016860312.1:p.Arg19308Gln | |
| XM_024453094.1:c.79418G>A (TTN) | XP_024308862.1:p.Arg26473Gln | |
| XM_024453095.1:c.79415G>A (TTN) | XP_024308863.1:p.Arg26472Gln | |
| XM_024453096.1:c.78848G>A (TTN) | XP_024308864.1:p.Arg26283Gln | |
| XM_024453097.1:c.76190G>A (TTN) | XP_024308865.1:p.Arg25397Gln | |
| XM_024453098.1:c.76109G>A (TTN) | XP_024308866.1:p.Arg25370Gln | |
| XM_024453099.1:c.57872G>A (TTN) | XP_024308867.1:p.Arg19291Gln | |
| XM_024453100.1:c.47726G>A (TTN) | XP_024308868.1:p.Arg15909Gln |