Linked Data
ClinVar Variation Id:
223261
dbSNP Id:
rs553821887
ExAC:
2:179404241 G / A
gnomAD v2:
2-179404241-G-A
gnomAD v3:
2-178539514-G-A
gnomAD v4:
2-178539514-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539514G>A , CM000664.2:g.178539514G>A | GRCh38 |
| NC_000002.11:g.179404241G>A , CM000664.1:g.179404241G>A | GRCh37 |
| NC_000002.10:g.179112487G>A | NCBI36 |
| NG_011618.3:g.296289C>T , LRG_391:g.296289C>T | |
| NG_051363.1:g.21688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90847C>T (TTN) | ENSP00000343764.6:p.Arg30283Ter | |
| ENST00000342175.11:c.71932C>T (TTN) | ENSP00000340554.6:p.Arg23978Ter | |
| ENST00000359218.10:c.71731C>T (TTN) | ENSP00000352154.5:p.Arg23911Ter | |
| ENST00000342175.10:c.71932C>T (TTN) | ENSP00000340554.6:p.Arg23978Ter | |
| ENST00000342992.10:c.90847C>T (TTN) | ENSP00000343764.6:p.Arg30283Ter | |
| ENST00000359218.9:c.71731C>T (TTN) | ENSP00000352154.5:p.Arg23911Ter | |
| ENST00000460472.6:c.71356C>T (TTN) | ENSP00000434586.1:p.Arg23786Ter | |
| ENST00000589042.5:c.98551C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32851Ter | |
| ENST00000591111.5:c.93628C>T (TTN) | ENSP00000465570.1:p.Arg31210Ter | |
| ENST00000615779.4:c.93628C>T (TTN) | ENSP00000483597.1:p.Arg31210Ter | |
| NM_001256850.1:c.93628C>T (TTN) | NP_001243779.1:p.Arg31210Ter | |
| NM_001267550.2:c.98551C>T (TTN) MANE Select | NP_001254479.2:p.Arg32851Ter | |
| NM_003319.4:c.71356C>T (TTN) | NP_003310.4:p.Arg23786Ter | |
| NM_133378.4:c.90847C>T (TTN) | NP_596869.4:p.Arg30283Ter | |
| NM_133432.3:c.71731C>T (TTN) | NP_597676.3:p.Arg23911Ter | |
| NM_133437.4:c.71932C>T (TTN) | NP_597681.4:p.Arg23978Ter | |
| NR_038271.1:n.446+15878G>A (TTN-AS1) | ||
| NR_038272.1:n.1464G>A (TTN-AS1) | ||
| XM_011511729.1:c.97648C>T (TTN) | XP_011510031.1:p.Arg32550Ter | |
| XM_011511730.1:c.71542C>T (TTN) | XP_011510032.1:p.Arg23848Ter | |
| XM_011511731.1:c.71401C>T (TTN) | XP_011510033.1:p.Arg23801Ter | |
| XM_017004819.1:c.97444C>T (TTN) | XP_016860308.1:p.Arg32482Ter | |
| XM_017004820.1:c.92842C>T (TTN) | XP_016860309.1:p.Arg30948Ter | |
| XM_017004821.1:c.92839C>T (TTN) | XP_016860310.1:p.Arg30947Ter | |
| XM_017004822.1:c.89881C>T (TTN) | XP_016860311.1:p.Arg29961Ter | |
| XM_017004823.1:c.71497C>T (TTN) | XP_016860312.1:p.Arg23833Ter | |
| XM_024453094.1:c.92992C>T (TTN) | XP_024308862.1:p.Arg30998Ter | |
| XM_024453095.1:c.92989C>T (TTN) | XP_024308863.1:p.Arg30997Ter | |
| XM_024453096.1:c.92422C>T (TTN) | XP_024308864.1:p.Arg30808Ter | |
| XM_024453097.1:c.89764C>T (TTN) | XP_024308865.1:p.Arg29922Ter | |
| XM_024453098.1:c.89683C>T (TTN) | XP_024308866.1:p.Arg29895Ter | |
| XM_024453099.1:c.71446C>T (TTN) | XP_024308867.1:p.Arg23816Ter | |
| XM_024453100.1:c.61300C>T (TTN) | XP_024308868.1:p.Arg20434Ter |