Linked Data
ClinVar Variation Id:
47249
dbSNP Id:
rs372388682
ExAC:
2:179444867 C / T
gnomAD v2:
2-179444867-C-T
gnomAD v3:
2-178580140-C-T
gnomAD v4:
2-178580140-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580140C>T , CM000664.2:g.178580140C>T | GRCh38 |
| NC_000002.11:g.179444867C>T , CM000664.1:g.179444867C>T | GRCh37 |
| NC_000002.10:g.179153113C>T | NCBI36 |
| NG_011618.3:g.255663G>A , LRG_391:g.255663G>A | |
| NG_051363.1:g.62314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59443G>A (TTN) | ENSP00000343764.6:p.Gly19815Arg | |
| ENST00000342175.11:c.40528G>A (TTN) | ENSP00000340554.6:p.Gly13510Arg | |
| ENST00000359218.10:c.40327G>A (TTN) | ENSP00000352154.5:p.Gly13443Arg | |
| ENST00000342175.10:c.40528G>A (TTN) | ENSP00000340554.6:p.Gly13510Arg | |
| ENST00000342992.10:c.59443G>A (TTN) | ENSP00000343764.6:p.Gly19815Arg | |
| ENST00000359218.9:c.40327G>A (TTN) | ENSP00000352154.5:p.Gly13443Arg | |
| ENST00000460472.6:c.39952G>A (TTN) | ENSP00000434586.1:p.Gly13318Arg | |
| ENST00000589042.5:c.67147G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly22383Arg | |
| ENST00000591111.5:c.62224G>A (TTN) | ENSP00000465570.1:p.Gly20742Arg | |
| ENST00000615779.4:c.62224G>A (TTN) | ENSP00000483597.1:p.Gly20742Arg | |
| NM_001256850.1:c.62224G>A (TTN) | NP_001243779.1:p.Gly20742Arg | |
| NM_001267550.2:c.67147G>A (TTN) MANE Select | NP_001254479.2:p.Gly22383Arg | |
| NM_003319.4:c.39952G>A (TTN) | NP_003310.4:p.Gly13318Arg | |
| NM_133378.4:c.59443G>A (TTN) | NP_596869.4:p.Gly19815Arg | |
| NM_133432.3:c.40327G>A (TTN) | NP_597676.3:p.Gly13443Arg | |
| NM_133437.4:c.40528G>A (TTN) | NP_597681.4:p.Gly13510Arg | |
| NR_038271.1:n.596+8691C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2432C>T (TTN-AS1) | ||
| XM_011511729.1:c.66244G>A (TTN) | XP_011510031.1:p.Gly22082Arg | |
| XM_011511730.1:c.40138G>A (TTN) | XP_011510032.1:p.Gly13380Arg | |
| XM_011511731.1:c.39997G>A (TTN) | XP_011510033.1:p.Gly13333Arg | |
| XM_017004819.1:c.66040G>A (TTN) | XP_016860308.1:p.Gly22014Arg | |
| XM_017004820.1:c.61438G>A (TTN) | XP_016860309.1:p.Gly20480Arg | |
| XM_017004821.1:c.61435G>A (TTN) | XP_016860310.1:p.Gly20479Arg | |
| XM_017004822.1:c.58477G>A (TTN) | XP_016860311.1:p.Gly19493Arg | |
| XM_017004823.1:c.40093G>A (TTN) | XP_016860312.1:p.Gly13365Arg | |
| XM_024453094.1:c.61588G>A (TTN) | XP_024308862.1:p.Gly20530Arg | |
| XM_024453095.1:c.61585G>A (TTN) | XP_024308863.1:p.Gly20529Arg | |
| XM_024453096.1:c.61018G>A (TTN) | XP_024308864.1:p.Gly20340Arg | |
| XM_024453097.1:c.58360G>A (TTN) | XP_024308865.1:p.Gly19454Arg | |
| XM_024453098.1:c.58279G>A (TTN) | XP_024308866.1:p.Gly19427Arg | |
| XM_024453099.1:c.40042G>A (TTN) | XP_024308867.1:p.Gly13348Arg | |
| XM_024453100.1:c.29896G>A (TTN) | XP_024308868.1:p.Gly9966Arg |