Linked Data
ClinVar Variation Id:
167767
ClinVar RCV Id:
RCV000154046
RCV000305658
RCV000393864
RCV000309303
RCV000360503
RCV000364029
RCV002345492
dbSNP Id:
rs189790119
ExAC:
2:179430306 G / A
gnomAD v2:
2-179430306-G-A
gnomAD v3:
2-178565579-G-A
gnomAD v4:
2-178565579-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565579G>A , CM000664.2:g.178565579G>A | GRCh38 |
| NC_000002.11:g.179430306G>A , CM000664.1:g.179430306G>A | GRCh37 |
| NC_000002.10:g.179138552G>A | NCBI36 |
| NG_011618.3:g.270224C>T , LRG_391:g.270224C>T | |
| NG_051363.1:g.47753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72849C>T (TTN) | ENSP00000343764.6:p.Phe24283= | |
| ENST00000342175.11:c.53934C>T (TTN) | ENSP00000340554.6:p.Phe17978= | |
| ENST00000359218.10:c.53733C>T (TTN) | ENSP00000352154.5:p.Phe17911= | |
| ENST00000342175.10:c.53934C>T (TTN) | ENSP00000340554.6:p.Phe17978= | |
| ENST00000342992.10:c.72849C>T (TTN) | ENSP00000343764.6:p.Phe24283= | |
| ENST00000359218.9:c.53733C>T (TTN) | ENSP00000352154.5:p.Phe17911= | |
| ENST00000460472.6:c.53358C>T (TTN) | ENSP00000434586.1:p.Phe17786= | |
| ENST00000589042.5:c.80553C>T (TTN) MANE Select | ENSP00000467141.1:p.Phe26851= | |
| ENST00000591111.5:c.75630C>T (TTN) | ENSP00000465570.1:p.Phe25210= | |
| ENST00000615779.4:c.75630C>T (TTN) | ENSP00000483597.1:p.Phe25210= | |
| NM_001256850.1:c.75630C>T (TTN) | NP_001243779.1:p.Phe25210= | |
| NM_001267550.2:c.80553C>T (TTN) MANE Select | NP_001254479.2:p.Phe26851= | |
| NM_003319.4:c.53358C>T (TTN) | NP_003310.4:p.Phe17786= | |
| NM_133378.4:c.72849C>T (TTN) | NP_596869.4:p.Phe24283= | |
| NM_133432.3:c.53733C>T (TTN) | NP_597676.3:p.Phe17911= | |
| NM_133437.4:c.53934C>T (TTN) | NP_597681.4:p.Phe17978= | |
| NR_038271.1:n.447-5721G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16993G>A (TTN-AS1) | ||
| XM_011511729.1:c.79650C>T (TTN) | XP_011510031.1:p.Phe26550= | |
| XM_011511730.1:c.53544C>T (TTN) | XP_011510032.1:p.Phe17848= | |
| XM_011511731.1:c.53403C>T (TTN) | XP_011510033.1:p.Phe17801= | |
| XM_017004819.1:c.79446C>T (TTN) | XP_016860308.1:p.Phe26482= | |
| XM_017004820.1:c.74844C>T (TTN) | XP_016860309.1:p.Phe24948= | |
| XM_017004821.1:c.74841C>T (TTN) | XP_016860310.1:p.Phe24947= | |
| XM_017004822.1:c.71883C>T (TTN) | XP_016860311.1:p.Phe23961= | |
| XM_017004823.1:c.53499C>T (TTN) | XP_016860312.1:p.Phe17833= | |
| XM_024453094.1:c.74994C>T (TTN) | XP_024308862.1:p.Phe24998= | |
| XM_024453095.1:c.74991C>T (TTN) | XP_024308863.1:p.Phe24997= | |
| XM_024453096.1:c.74424C>T (TTN) | XP_024308864.1:p.Phe24808= | |
| XM_024453097.1:c.71766C>T (TTN) | XP_024308865.1:p.Phe23922= | |
| XM_024453098.1:c.71685C>T (TTN) | XP_024308866.1:p.Phe23895= | |
| XM_024453099.1:c.53448C>T (TTN) | XP_024308867.1:p.Phe17816= | |
| XM_024453100.1:c.43302C>T (TTN) | XP_024308868.1:p.Phe14434= |