Linked Data
ClinVar Variation Id:
535061
dbSNP Id:
rs778524334
ExAC:
2:179395248 C / T
gnomAD v2:
2-179395248-C-T
gnomAD v3:
2-178530521-C-T
gnomAD v4:
2-178530521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530521C>T , CM000664.2:g.178530521C>T | GRCh38 |
| NC_000002.11:g.179395248C>T , CM000664.1:g.179395248C>T | GRCh37 |
| NC_000002.10:g.179103494C>T | NCBI36 |
| NG_011618.3:g.305282G>A , LRG_391:g.305282G>A | |
| NG_051363.1:g.12695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98390G>A (TTN) | ENSP00000343764.6:p.Gly32797Asp | |
| ENST00000342175.11:c.79475G>A (TTN) | ENSP00000340554.6:p.Gly26492Asp | |
| ENST00000359218.10:c.79274G>A (TTN) | ENSP00000352154.5:p.Gly26425Asp | |
| ENST00000342175.10:c.79475G>A (TTN) | ENSP00000340554.6:p.Gly26492Asp | |
| ENST00000342992.10:c.98390G>A (TTN) | ENSP00000343764.6:p.Gly32797Asp | |
| ENST00000359218.9:c.79274G>A (TTN) | ENSP00000352154.5:p.Gly26425Asp | |
| ENST00000460472.6:c.78899G>A (TTN) | ENSP00000434586.1:p.Gly26300Asp | |
| ENST00000589042.5:c.106094G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly35365Asp | |
| ENST00000591111.5:c.101171G>A (TTN) | ENSP00000465570.1:p.Gly33724Asp | |
| ENST00000615779.4:c.101171G>A (TTN) | ENSP00000483597.1:p.Gly33724Asp | |
| NM_001256850.1:c.101171G>A (TTN) | NP_001243779.1:p.Gly33724Asp | |
| NM_001267550.2:c.106094G>A (TTN) MANE Select | NP_001254479.2:p.Gly35365Asp | |
| NM_003319.4:c.78899G>A (TTN) | NP_003310.4:p.Gly26300Asp | |
| NM_133378.4:c.98390G>A (TTN) | NP_596869.4:p.Gly32797Asp | |
| NM_133432.3:c.79274G>A (TTN) | NP_597676.3:p.Gly26425Asp | |
| NM_133437.4:c.79475G>A (TTN) | NP_597681.4:p.Gly26492Asp | |
| NR_038271.1:n.446+6885C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5211C>T (TTN-AS1) | ||
| XM_011511729.1:c.105191G>A (TTN) | XP_011510031.1:p.Gly35064Asp | |
| XM_011511730.1:c.79085G>A (TTN) | XP_011510032.1:p.Gly26362Asp | |
| XM_011511731.1:c.78944G>A (TTN) | XP_011510033.1:p.Gly26315Asp | |
| XM_017004819.1:c.104987G>A (TTN) | XP_016860308.1:p.Gly34996Asp | |
| XM_017004820.1:c.100385G>A (TTN) | XP_016860309.1:p.Gly33462Asp | |
| XM_017004821.1:c.100382G>A (TTN) | XP_016860310.1:p.Gly33461Asp | |
| XM_017004822.1:c.97424G>A (TTN) | XP_016860311.1:p.Gly32475Asp | |
| XM_017004823.1:c.79040G>A (TTN) | XP_016860312.1:p.Gly26347Asp | |
| XM_024453094.1:c.100535G>A (TTN) | XP_024308862.1:p.Gly33512Asp | |
| XM_024453095.1:c.100532G>A (TTN) | XP_024308863.1:p.Gly33511Asp | |
| XM_024453096.1:c.99965G>A (TTN) | XP_024308864.1:p.Gly33322Asp | |
| XM_024453097.1:c.97307G>A (TTN) | XP_024308865.1:p.Gly32436Asp | |
| XM_024453098.1:c.97226G>A (TTN) | XP_024308866.1:p.Gly32409Asp | |
| XM_024453099.1:c.78989G>A (TTN) | XP_024308867.1:p.Gly26330Asp | |
| XM_024453100.1:c.68843G>A (TTN) | XP_024308868.1:p.Gly22948Asp |