Linked Data
ClinVar Variation Id:
535508
dbSNP Id:
rs759095633
ExAC:
2:179427449 C / T
gnomAD v2:
2-179427449-C-T
gnomAD v4:
2-178562722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562722C>T , CM000664.2:g.178562722C>T | GRCh38 |
| NC_000002.11:g.179427449C>T , CM000664.1:g.179427449C>T | GRCh37 |
| NC_000002.10:g.179135695C>T | NCBI36 |
| NG_011618.3:g.273081G>A , LRG_391:g.273081G>A | |
| NG_051363.1:g.44896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75706G>A (TTN) | ENSP00000343764.6:p.Glu25236Lys | |
| ENST00000342175.11:c.56791G>A (TTN) | ENSP00000340554.6:p.Glu18931Lys | |
| ENST00000359218.10:c.56590G>A (TTN) | ENSP00000352154.5:p.Glu18864Lys | |
| ENST00000342175.10:c.56791G>A (TTN) | ENSP00000340554.6:p.Glu18931Lys | |
| ENST00000342992.10:c.75706G>A (TTN) | ENSP00000343764.6:p.Glu25236Lys | |
| ENST00000359218.9:c.56590G>A (TTN) | ENSP00000352154.5:p.Glu18864Lys | |
| ENST00000460472.6:c.56215G>A (TTN) | ENSP00000434586.1:p.Glu18739Lys | |
| ENST00000589042.5:c.83410G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu27804Lys | |
| ENST00000591111.5:c.78487G>A (TTN) | ENSP00000465570.1:p.Glu26163Lys | |
| ENST00000615779.4:c.78487G>A (TTN) | ENSP00000483597.1:p.Glu26163Lys | |
| NM_001256850.1:c.78487G>A (TTN) | NP_001243779.1:p.Glu26163Lys | |
| NM_001267550.2:c.83410G>A (TTN) MANE Select | NP_001254479.2:p.Glu27804Lys | |
| NM_003319.4:c.56215G>A (TTN) | NP_003310.4:p.Glu18739Lys | |
| NM_133378.4:c.75706G>A (TTN) | NP_596869.4:p.Glu25236Lys | |
| NM_133432.3:c.56590G>A (TTN) | NP_597676.3:p.Glu18864Lys | |
| NM_133437.4:c.56791G>A (TTN) | NP_597681.4:p.Glu18931Lys | |
| NR_038271.1:n.447-8578C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19850C>T (TTN-AS1) | ||
| XM_011511729.1:c.82507G>A (TTN) | XP_011510031.1:p.Glu27503Lys | |
| XM_011511730.1:c.56401G>A (TTN) | XP_011510032.1:p.Glu18801Lys | |
| XM_011511731.1:c.56260G>A (TTN) | XP_011510033.1:p.Glu18754Lys | |
| XM_017004819.1:c.82303G>A (TTN) | XP_016860308.1:p.Glu27435Lys | |
| XM_017004820.1:c.77701G>A (TTN) | XP_016860309.1:p.Glu25901Lys | |
| XM_017004821.1:c.77698G>A (TTN) | XP_016860310.1:p.Glu25900Lys | |
| XM_017004822.1:c.74740G>A (TTN) | XP_016860311.1:p.Glu24914Lys | |
| XM_017004823.1:c.56356G>A (TTN) | XP_016860312.1:p.Glu18786Lys | |
| XM_024453094.1:c.77851G>A (TTN) | XP_024308862.1:p.Glu25951Lys | |
| XM_024453095.1:c.77848G>A (TTN) | XP_024308863.1:p.Glu25950Lys | |
| XM_024453096.1:c.77281G>A (TTN) | XP_024308864.1:p.Glu25761Lys | |
| XM_024453097.1:c.74623G>A (TTN) | XP_024308865.1:p.Glu24875Lys | |
| XM_024453098.1:c.74542G>A (TTN) | XP_024308866.1:p.Glu24848Lys | |
| XM_024453099.1:c.56305G>A (TTN) | XP_024308867.1:p.Glu18769Lys | |
| XM_024453100.1:c.46159G>A (TTN) | XP_024308868.1:p.Glu15387Lys |