Linked Data
ClinVar Variation Id:
223258
dbSNP Id:
rs757231565
ExAC:
2:179453946 G / A
gnomAD v2:
2-179453946-G-A
gnomAD v4:
2-178589219-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589219G>A , CM000664.2:g.178589219G>A | GRCh38 |
| NC_000002.11:g.179453946G>A , CM000664.1:g.179453946G>A | GRCh37 |
| NC_000002.10:g.179162192G>A | NCBI36 |
| NG_011618.3:g.246584C>T , LRG_391:g.246584C>T | |
| NG_051363.1:g.71393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54802C>T (TTN) | ENSP00000343764.6:p.Arg18268Ter | |
| ENST00000342175.11:c.35887C>T (TTN) | ENSP00000340554.6:p.Arg11963Ter | |
| ENST00000359218.10:c.35686C>T (TTN) | ENSP00000352154.5:p.Arg11896Ter | |
| ENST00000342175.10:c.35887C>T (TTN) | ENSP00000340554.6:p.Arg11963Ter | |
| ENST00000342992.10:c.54802C>T (TTN) | ENSP00000343764.6:p.Arg18268Ter | |
| ENST00000359218.9:c.35686C>T (TTN) | ENSP00000352154.5:p.Arg11896Ter | |
| ENST00000460472.6:c.35311C>T (TTN) | ENSP00000434586.1:p.Arg11771Ter | |
| ENST00000589042.5:c.62506C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20836Ter | |
| ENST00000591111.5:c.57583C>T (TTN) | ENSP00000465570.1:p.Arg19195Ter | |
| ENST00000615779.4:c.57583C>T (TTN) | ENSP00000483597.1:p.Arg19195Ter | |
| NM_001256850.1:c.57583C>T (TTN) | NP_001243779.1:p.Arg19195Ter | |
| NM_001267550.2:c.62506C>T (TTN) MANE Select | NP_001254479.2:p.Arg20836Ter | |
| NM_003319.4:c.35311C>T (TTN) | NP_003310.4:p.Arg11771Ter | |
| NM_133378.4:c.54802C>T (TTN) | NP_596869.4:p.Arg18268Ter | |
| NM_133432.3:c.35686C>T (TTN) | NP_597676.3:p.Arg11896Ter | |
| NM_133437.4:c.35887C>T (TTN) | NP_597681.4:p.Arg11963Ter | |
| NR_038271.1:n.597-8377G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1920G>A (TTN-AS1) | ||
| XM_011511729.1:c.61603C>T (TTN) | XP_011510031.1:p.Arg20535Ter | |
| XM_011511730.1:c.35497C>T (TTN) | XP_011510032.1:p.Arg11833Ter | |
| XM_011511731.1:c.35356C>T (TTN) | XP_011510033.1:p.Arg11786Ter | |
| XM_017004819.1:c.61399C>T (TTN) | XP_016860308.1:p.Arg20467Ter | |
| XM_017004820.1:c.56797C>T (TTN) | XP_016860309.1:p.Arg18933Ter | |
| XM_017004821.1:c.56794C>T (TTN) | XP_016860310.1:p.Arg18932Ter | |
| XM_017004822.1:c.53836C>T (TTN) | XP_016860311.1:p.Arg17946Ter | |
| XM_017004823.1:c.35452C>T (TTN) | XP_016860312.1:p.Arg11818Ter | |
| XM_024453094.1:c.56947C>T (TTN) | XP_024308862.1:p.Arg18983Ter | |
| XM_024453095.1:c.56944C>T (TTN) | XP_024308863.1:p.Arg18982Ter | |
| XM_024453096.1:c.56377C>T (TTN) | XP_024308864.1:p.Arg18793Ter | |
| XM_024453097.1:c.53719C>T (TTN) | XP_024308865.1:p.Arg17907Ter | |
| XM_024453098.1:c.53638C>T (TTN) | XP_024308866.1:p.Arg17880Ter | |
| XM_024453099.1:c.35401C>T (TTN) | XP_024308867.1:p.Arg11801Ter | |
| XM_024453100.1:c.25255C>T (TTN) | XP_024308868.1:p.Arg8419Ter |