Linked Data
ClinVar Variation Id:
191820
dbSNP Id:
rs199932621
ExAC:
2:179398515 C / T
gnomAD v2:
2-179398515-C-T
gnomAD v3:
2-178533788-C-T
gnomAD v4:
2-178533788-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533788C>T , CM000664.2:g.178533788C>T | GRCh38 |
| NC_000002.11:g.179398515C>T , CM000664.1:g.179398515C>T | GRCh37 |
| NC_000002.10:g.179106761C>T | NCBI36 |
| NG_011618.3:g.302015G>A , LRG_391:g.302015G>A | |
| NG_051363.1:g.15962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95123G>A (TTN) | ENSP00000343764.6:p.Arg31708Gln | |
| ENST00000342175.11:c.76208G>A (TTN) | ENSP00000340554.6:p.Arg25403Gln | |
| ENST00000359218.10:c.76007G>A (TTN) | ENSP00000352154.5:p.Arg25336Gln | |
| ENST00000342175.10:c.76208G>A (TTN) | ENSP00000340554.6:p.Arg25403Gln | |
| ENST00000342992.10:c.95123G>A (TTN) | ENSP00000343764.6:p.Arg31708Gln | |
| ENST00000359218.9:c.76007G>A (TTN) | ENSP00000352154.5:p.Arg25336Gln | |
| ENST00000460472.6:c.75632G>A (TTN) | ENSP00000434586.1:p.Arg25211Gln | |
| ENST00000589042.5:c.102827G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34276Gln | |
| ENST00000591111.5:c.97904G>A (TTN) | ENSP00000465570.1:p.Arg32635Gln | |
| ENST00000615779.4:c.97904G>A (TTN) | ENSP00000483597.1:p.Arg32635Gln | |
| NM_001256850.1:c.97904G>A (TTN) | NP_001243779.1:p.Arg32635Gln | |
| NM_001267550.2:c.102827G>A (TTN) MANE Select | NP_001254479.2:p.Arg34276Gln | |
| NM_003319.4:c.75632G>A (TTN) | NP_003310.4:p.Arg25211Gln | |
| NM_133378.4:c.95123G>A (TTN) | NP_596869.4:p.Arg31708Gln | |
| NM_133432.3:c.76007G>A (TTN) | NP_597676.3:p.Arg25336Gln | |
| NM_133437.4:c.76208G>A (TTN) | NP_597681.4:p.Arg25403Gln | |
| NR_038271.1:n.446+10152C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1944C>T (TTN-AS1) | ||
| XM_011511729.1:c.101924G>A (TTN) | XP_011510031.1:p.Arg33975Gln | |
| XM_011511730.1:c.75818G>A (TTN) | XP_011510032.1:p.Arg25273Gln | |
| XM_011511731.1:c.75677G>A (TTN) | XP_011510033.1:p.Arg25226Gln | |
| XM_017004819.1:c.101720G>A (TTN) | XP_016860308.1:p.Arg33907Gln | |
| XM_017004820.1:c.97118G>A (TTN) | XP_016860309.1:p.Arg32373Gln | |
| XM_017004821.1:c.97115G>A (TTN) | XP_016860310.1:p.Arg32372Gln | |
| XM_017004822.1:c.94157G>A (TTN) | XP_016860311.1:p.Arg31386Gln | |
| XM_017004823.1:c.75773G>A (TTN) | XP_016860312.1:p.Arg25258Gln | |
| XM_024453094.1:c.97268G>A (TTN) | XP_024308862.1:p.Arg32423Gln | |
| XM_024453095.1:c.97265G>A (TTN) | XP_024308863.1:p.Arg32422Gln | |
| XM_024453096.1:c.96698G>A (TTN) | XP_024308864.1:p.Arg32233Gln | |
| XM_024453097.1:c.94040G>A (TTN) | XP_024308865.1:p.Arg31347Gln | |
| XM_024453098.1:c.93959G>A (TTN) | XP_024308866.1:p.Arg31320Gln | |
| XM_024453099.1:c.75722G>A (TTN) | XP_024308867.1:p.Arg25241Gln | |
| XM_024453100.1:c.65576G>A (TTN) | XP_024308868.1:p.Arg21859Gln |