Linked Data
ClinVar Variation Id:
203066
dbSNP Id:
rs201954720
ExAC:
2:179398818 C / T
gnomAD v2:
2-179398818-C-T
gnomAD v3:
2-178534091-C-T
gnomAD v4:
2-178534091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534091C>T , CM000664.2:g.178534091C>T | GRCh38 |
| NC_000002.11:g.179398818C>T , CM000664.1:g.179398818C>T | GRCh37 |
| NC_000002.10:g.179107064C>T | NCBI36 |
| NG_011618.3:g.301712G>A , LRG_391:g.301712G>A | |
| NG_051363.1:g.16265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94820G>A (TTN) | ENSP00000343764.6:p.Arg31607Gln | |
| ENST00000342175.11:c.75905G>A (TTN) | ENSP00000340554.6:p.Arg25302Gln | |
| ENST00000359218.10:c.75704G>A (TTN) | ENSP00000352154.5:p.Arg25235Gln | |
| ENST00000342175.10:c.75905G>A (TTN) | ENSP00000340554.6:p.Arg25302Gln | |
| ENST00000342992.10:c.94820G>A (TTN) | ENSP00000343764.6:p.Arg31607Gln | |
| ENST00000359218.9:c.75704G>A (TTN) | ENSP00000352154.5:p.Arg25235Gln | |
| ENST00000460472.6:c.75329G>A (TTN) | ENSP00000434586.1:p.Arg25110Gln | |
| ENST00000589042.5:c.102524G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34175Gln | |
| ENST00000591111.5:c.97601G>A (TTN) | ENSP00000465570.1:p.Arg32534Gln | |
| ENST00000615779.4:c.97601G>A (TTN) | ENSP00000483597.1:p.Arg32534Gln | |
| NM_001256850.1:c.97601G>A (TTN) | NP_001243779.1:p.Arg32534Gln | |
| NM_001267550.2:c.102524G>A (TTN) MANE Select | NP_001254479.2:p.Arg34175Gln | |
| NM_003319.4:c.75329G>A (TTN) | NP_003310.4:p.Arg25110Gln | |
| NM_133378.4:c.94820G>A (TTN) | NP_596869.4:p.Arg31607Gln | |
| NM_133432.3:c.75704G>A (TTN) | NP_597676.3:p.Arg25235Gln | |
| NM_133437.4:c.75905G>A (TTN) | NP_597681.4:p.Arg25302Gln | |
| NR_038271.1:n.446+10455C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1641C>T (TTN-AS1) | ||
| XM_011511729.1:c.101621G>A (TTN) | XP_011510031.1:p.Arg33874Gln | |
| XM_011511730.1:c.75515G>A (TTN) | XP_011510032.1:p.Arg25172Gln | |
| XM_011511731.1:c.75374G>A (TTN) | XP_011510033.1:p.Arg25125Gln | |
| XM_017004819.1:c.101417G>A (TTN) | XP_016860308.1:p.Arg33806Gln | |
| XM_017004820.1:c.96815G>A (TTN) | XP_016860309.1:p.Arg32272Gln | |
| XM_017004821.1:c.96812G>A (TTN) | XP_016860310.1:p.Arg32271Gln | |
| XM_017004822.1:c.93854G>A (TTN) | XP_016860311.1:p.Arg31285Gln | |
| XM_017004823.1:c.75470G>A (TTN) | XP_016860312.1:p.Arg25157Gln | |
| XM_024453094.1:c.96965G>A (TTN) | XP_024308862.1:p.Arg32322Gln | |
| XM_024453095.1:c.96962G>A (TTN) | XP_024308863.1:p.Arg32321Gln | |
| XM_024453096.1:c.96395G>A (TTN) | XP_024308864.1:p.Arg32132Gln | |
| XM_024453097.1:c.93737G>A (TTN) | XP_024308865.1:p.Arg31246Gln | |
| XM_024453098.1:c.93656G>A (TTN) | XP_024308866.1:p.Arg31219Gln | |
| XM_024453099.1:c.75419G>A (TTN) | XP_024308867.1:p.Arg25140Gln | |
| XM_024453100.1:c.65273G>A (TTN) | XP_024308868.1:p.Arg21758Gln |