Linked Data
ClinVar Variation Id:
47229
ClinVar RCV Id:
RCV000040499
RCV000241625
RCV000282835
RCV000337921
RCV000381175
RCV000341241
RCV000408381
RCV000466378
RCV001170583
RCV001703903
RCV004528213
dbSNP Id:
rs148849567
ExAC:
2:179447783 C / T
gnomAD v2:
2-179447783-C-T
gnomAD v3:
2-178583056-C-T
gnomAD v4:
2-178583056-C-T
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583056C>T , CM000664.2:g.178583056C>T | GRCh38 |
| NC_000002.11:g.179447783C>T , CM000664.1:g.179447783C>T | GRCh37 |
| NC_000002.10:g.179156029C>T | NCBI36 |
| NG_011618.3:g.252747G>A , LRG_391:g.252747G>A | |
| NG_051363.1:g.65230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58043G>A (TTN) | ENSP00000343764.6:p.Arg19348Gln | |
| ENST00000342175.11:c.39128G>A (TTN) | ENSP00000340554.6:p.Arg13043Gln | |
| ENST00000359218.10:c.38927G>A (TTN) | ENSP00000352154.5:p.Arg12976Gln | |
| ENST00000342175.10:c.39128G>A (TTN) | ENSP00000340554.6:p.Arg13043Gln | |
| ENST00000342992.10:c.58043G>A (TTN) | ENSP00000343764.6:p.Arg19348Gln | |
| ENST00000359218.9:c.38927G>A (TTN) | ENSP00000352154.5:p.Arg12976Gln | |
| ENST00000460472.6:c.38552G>A (TTN) | ENSP00000434586.1:p.Arg12851Gln | |
| ENST00000589042.5:c.65747G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21916Gln | |
| ENST00000591111.5:c.60824G>A (TTN) | ENSP00000465570.1:p.Arg20275Gln | |
| ENST00000615779.4:c.60824G>A (TTN) | ENSP00000483597.1:p.Arg20275Gln | |
| NM_001256850.1:c.60824G>A (TTN) | NP_001243779.1:p.Arg20275Gln | |
| NM_001267550.2:c.65747G>A (TTN) MANE Select | NP_001254479.2:p.Arg21916Gln | |
| NM_003319.4:c.38552G>A (TTN) | NP_003310.4:p.Arg12851Gln | |
| NM_133378.4:c.58043G>A (TTN) | NP_596869.4:p.Arg19348Gln | |
| NM_133432.3:c.38927G>A (TTN) | NP_597676.3:p.Arg12976Gln | |
| NM_133437.4:c.39128G>A (TTN) | NP_597681.4:p.Arg13043Gln | |
| NR_038271.1:n.596+11607C>T (TTN-AS1) | ||
| NR_038272.1:n.2244C>T (TTN-AS1) | ||
| XM_011511729.1:c.64844G>A (TTN) | XP_011510031.1:p.Arg21615Gln | |
| XM_011511730.1:c.38738G>A (TTN) | XP_011510032.1:p.Arg12913Gln | |
| XM_011511731.1:c.38597G>A (TTN) | XP_011510033.1:p.Arg12866Gln | |
| XM_017004819.1:c.64640G>A (TTN) | XP_016860308.1:p.Arg21547Gln | |
| XM_017004820.1:c.60038G>A (TTN) | XP_016860309.1:p.Arg20013Gln | |
| XM_017004821.1:c.60035G>A (TTN) | XP_016860310.1:p.Arg20012Gln | |
| XM_017004822.1:c.57077G>A (TTN) | XP_016860311.1:p.Arg19026Gln | |
| XM_017004823.1:c.38693G>A (TTN) | XP_016860312.1:p.Arg12898Gln | |
| XM_024453094.1:c.60188G>A (TTN) | XP_024308862.1:p.Arg20063Gln | |
| XM_024453095.1:c.60185G>A (TTN) | XP_024308863.1:p.Arg20062Gln | |
| XM_024453096.1:c.59618G>A (TTN) | XP_024308864.1:p.Arg19873Gln | |
| XM_024453097.1:c.56960G>A (TTN) | XP_024308865.1:p.Arg18987Gln | |
| XM_024453098.1:c.56879G>A (TTN) | XP_024308866.1:p.Arg18960Gln | |
| XM_024453099.1:c.38642G>A (TTN) | XP_024308867.1:p.Arg12881Gln | |
| XM_024453100.1:c.28496G>A (TTN) | XP_024308868.1:p.Arg9499Gln |