Linked Data
ClinVar Variation Id:
165819
dbSNP Id:
rs140942979
ExAC:
2:179431449 C / T
gnomAD v2:
2-179431449-C-T
gnomAD v3:
2-178566722-C-T
gnomAD v4:
2-178566722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566722C>T , CM000664.2:g.178566722C>T | GRCh38 |
| NC_000002.11:g.179431449C>T , CM000664.1:g.179431449C>T | GRCh37 |
| NC_000002.10:g.179139695C>T | NCBI36 |
| NG_011618.3:g.269081G>A , LRG_391:g.269081G>A | |
| NG_051363.1:g.48896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71706G>A (TTN) | ENSP00000343764.6:p.Gly23902= | |
| ENST00000342175.11:c.52791G>A (TTN) | ENSP00000340554.6:p.Gly17597= | |
| ENST00000359218.10:c.52590G>A (TTN) | ENSP00000352154.5:p.Gly17530= | |
| ENST00000342175.10:c.52791G>A (TTN) | ENSP00000340554.6:p.Gly17597= | |
| ENST00000342992.10:c.71706G>A (TTN) | ENSP00000343764.6:p.Gly23902= | |
| ENST00000359218.9:c.52590G>A (TTN) | ENSP00000352154.5:p.Gly17530= | |
| ENST00000460472.6:c.52215G>A (TTN) | ENSP00000434586.1:p.Gly17405= | |
| ENST00000589042.5:c.79410G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly26470= | |
| ENST00000591111.5:c.74487G>A (TTN) | ENSP00000465570.1:p.Gly24829= | |
| ENST00000615779.4:c.74487G>A (TTN) | ENSP00000483597.1:p.Gly24829= | |
| NM_001256850.1:c.74487G>A (TTN) | NP_001243779.1:p.Gly24829= | |
| NM_001267550.2:c.79410G>A (TTN) MANE Select | NP_001254479.2:p.Gly26470= | |
| NM_003319.4:c.52215G>A (TTN) | NP_003310.4:p.Gly17405= | |
| NM_133378.4:c.71706G>A (TTN) | NP_596869.4:p.Gly23902= | |
| NM_133432.3:c.52590G>A (TTN) | NP_597676.3:p.Gly17530= | |
| NM_133437.4:c.52791G>A (TTN) | NP_597681.4:p.Gly17597= | |
| NR_038271.1:n.447-4578C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15850C>T (TTN-AS1) | ||
| XM_011511729.1:c.78507G>A (TTN) | XP_011510031.1:p.Gly26169= | |
| XM_011511730.1:c.52401G>A (TTN) | XP_011510032.1:p.Gly17467= | |
| XM_011511731.1:c.52260G>A (TTN) | XP_011510033.1:p.Gly17420= | |
| XM_017004819.1:c.78303G>A (TTN) | XP_016860308.1:p.Gly26101= | |
| XM_017004820.1:c.73701G>A (TTN) | XP_016860309.1:p.Gly24567= | |
| XM_017004821.1:c.73698G>A (TTN) | XP_016860310.1:p.Gly24566= | |
| XM_017004822.1:c.70740G>A (TTN) | XP_016860311.1:p.Gly23580= | |
| XM_017004823.1:c.52356G>A (TTN) | XP_016860312.1:p.Gly17452= | |
| XM_024453094.1:c.73851G>A (TTN) | XP_024308862.1:p.Gly24617= | |
| XM_024453095.1:c.73848G>A (TTN) | XP_024308863.1:p.Gly24616= | |
| XM_024453096.1:c.73281G>A (TTN) | XP_024308864.1:p.Gly24427= | |
| XM_024453097.1:c.70623G>A (TTN) | XP_024308865.1:p.Gly23541= | |
| XM_024453098.1:c.70542G>A (TTN) | XP_024308866.1:p.Gly23514= | |
| XM_024453099.1:c.52305G>A (TTN) | XP_024308867.1:p.Gly17435= | |
| XM_024453100.1:c.42159G>A (TTN) | XP_024308868.1:p.Gly14053= |