Linked Data
ClinVar Variation Id:
167754
dbSNP Id:
rs727504184
ExAC:
2:179397250 G / A
gnomAD v2:
2-179397250-G-A
gnomAD v3:
2-178532523-G-A
gnomAD v4:
2-178532523-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532523G>A , CM000664.2:g.178532523G>A | GRCh38 |
| NC_000002.11:g.179397250G>A , CM000664.1:g.179397250G>A | GRCh37 |
| NC_000002.10:g.179105496G>A | NCBI36 |
| NG_011618.3:g.303280C>T , LRG_391:g.303280C>T | |
| NG_051363.1:g.14697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96388C>T (TTN) | ENSP00000343764.6:p.Arg32130Ter | |
| ENST00000342175.11:c.77473C>T (TTN) | ENSP00000340554.6:p.Arg25825Ter | |
| ENST00000359218.10:c.77272C>T (TTN) | ENSP00000352154.5:p.Arg25758Ter | |
| ENST00000342175.10:c.77473C>T (TTN) | ENSP00000340554.6:p.Arg25825Ter | |
| ENST00000342992.10:c.96388C>T (TTN) | ENSP00000343764.6:p.Arg32130Ter | |
| ENST00000359218.9:c.77272C>T (TTN) | ENSP00000352154.5:p.Arg25758Ter | |
| ENST00000460472.6:c.76897C>T (TTN) | ENSP00000434586.1:p.Arg25633Ter | |
| ENST00000589042.5:c.104092C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34698Ter | |
| ENST00000591111.5:c.99169C>T (TTN) | ENSP00000465570.1:p.Arg33057Ter | |
| ENST00000615779.4:c.99169C>T (TTN) | ENSP00000483597.1:p.Arg33057Ter | |
| NM_001256850.1:c.99169C>T (TTN) | NP_001243779.1:p.Arg33057Ter | |
| NM_001267550.2:c.104092C>T (TTN) MANE Select | NP_001254479.2:p.Arg34698Ter | |
| NM_003319.4:c.76897C>T (TTN) | NP_003310.4:p.Arg25633Ter | |
| NM_133378.4:c.96388C>T (TTN) | NP_596869.4:p.Arg32130Ter | |
| NM_133432.3:c.77272C>T (TTN) | NP_597676.3:p.Arg25758Ter | |
| NM_133437.4:c.77473C>T (TTN) | NP_597681.4:p.Arg25825Ter | |
| NR_038271.1:n.446+8887G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3209G>A (TTN-AS1) | ||
| XM_011511729.1:c.103189C>T (TTN) | XP_011510031.1:p.Arg34397Ter | |
| XM_011511730.1:c.77083C>T (TTN) | XP_011510032.1:p.Arg25695Ter | |
| XM_011511731.1:c.76942C>T (TTN) | XP_011510033.1:p.Arg25648Ter | |
| XM_017004819.1:c.102985C>T (TTN) | XP_016860308.1:p.Arg34329Ter | |
| XM_017004820.1:c.98383C>T (TTN) | XP_016860309.1:p.Arg32795Ter | |
| XM_017004821.1:c.98380C>T (TTN) | XP_016860310.1:p.Arg32794Ter | |
| XM_017004822.1:c.95422C>T (TTN) | XP_016860311.1:p.Arg31808Ter | |
| XM_017004823.1:c.77038C>T (TTN) | XP_016860312.1:p.Arg25680Ter | |
| XM_024453094.1:c.98533C>T (TTN) | XP_024308862.1:p.Arg32845Ter | |
| XM_024453095.1:c.98530C>T (TTN) | XP_024308863.1:p.Arg32844Ter | |
| XM_024453096.1:c.97963C>T (TTN) | XP_024308864.1:p.Arg32655Ter | |
| XM_024453097.1:c.95305C>T (TTN) | XP_024308865.1:p.Arg31769Ter | |
| XM_024453098.1:c.95224C>T (TTN) | XP_024308866.1:p.Arg31742Ter | |
| XM_024453099.1:c.76987C>T (TTN) | XP_024308867.1:p.Arg25663Ter | |
| XM_024453100.1:c.66841C>T (TTN) | XP_024308868.1:p.Arg22281Ter |