Linked Data
ClinVar Variation Id:
47291
dbSNP Id:
rs397517687
ExAC:
2:179440111 G / T
gnomAD v2:
2-179440111-G-T
gnomAD v3:
2-178575384-G-T
gnomAD v4:
2-178575384-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575384G>T , CM000664.2:g.178575384G>T | GRCh38 |
| NC_000002.11:g.179440111G>T , CM000664.1:g.179440111G>T | GRCh37 |
| NC_000002.10:g.179148357G>T | NCBI36 |
| NG_011618.3:g.260419C>A , LRG_391:g.260419C>A | |
| NG_051363.1:g.57558G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63044C>A (TTN) | ENSP00000343764.6:p.Thr21015Lys | |
| ENST00000342175.11:c.44129C>A (TTN) | ENSP00000340554.6:p.Thr14710Lys | |
| ENST00000359218.10:c.43928C>A (TTN) | ENSP00000352154.5:p.Thr14643Lys | |
| ENST00000342175.10:c.44129C>A (TTN) | ENSP00000340554.6:p.Thr14710Lys | |
| ENST00000342992.10:c.63044C>A (TTN) | ENSP00000343764.6:p.Thr21015Lys | |
| ENST00000359218.9:c.43928C>A (TTN) | ENSP00000352154.5:p.Thr14643Lys | |
| ENST00000460472.6:c.43553C>A (TTN) | ENSP00000434586.1:p.Thr14518Lys | |
| ENST00000589042.5:c.70748C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr23583Lys | |
| ENST00000591111.5:c.65825C>A (TTN) | ENSP00000465570.1:p.Thr21942Lys | |
| ENST00000615779.4:c.65825C>A (TTN) | ENSP00000483597.1:p.Thr21942Lys | |
| NM_001256850.1:c.65825C>A (TTN) | NP_001243779.1:p.Thr21942Lys | |
| NM_001267550.2:c.70748C>A (TTN) MANE Select | NP_001254479.2:p.Thr23583Lys | |
| NM_003319.4:c.43553C>A (TTN) | NP_003310.4:p.Thr14518Lys | |
| NM_133378.4:c.63044C>A (TTN) | NP_596869.4:p.Thr21015Lys | |
| NM_133432.3:c.43928C>A (TTN) | NP_597676.3:p.Thr14643Lys | |
| NM_133437.4:c.44129C>A (TTN) | NP_597681.4:p.Thr14710Lys | |
| NR_038271.1:n.596+3935G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7188G>T (TTN-AS1) | ||
| XM_011511729.1:c.69845C>A (TTN) | XP_011510031.1:p.Thr23282Lys | |
| XM_011511730.1:c.43739C>A (TTN) | XP_011510032.1:p.Thr14580Lys | |
| XM_011511731.1:c.43598C>A (TTN) | XP_011510033.1:p.Thr14533Lys | |
| XM_017004819.1:c.69641C>A (TTN) | XP_016860308.1:p.Thr23214Lys | |
| XM_017004820.1:c.65039C>A (TTN) | XP_016860309.1:p.Thr21680Lys | |
| XM_017004821.1:c.65036C>A (TTN) | XP_016860310.1:p.Thr21679Lys | |
| XM_017004822.1:c.62078C>A (TTN) | XP_016860311.1:p.Thr20693Lys | |
| XM_017004823.1:c.43694C>A (TTN) | XP_016860312.1:p.Thr14565Lys | |
| XM_024453094.1:c.65189C>A (TTN) | XP_024308862.1:p.Thr21730Lys | |
| XM_024453095.1:c.65186C>A (TTN) | XP_024308863.1:p.Thr21729Lys | |
| XM_024453096.1:c.64619C>A (TTN) | XP_024308864.1:p.Thr21540Lys | |
| XM_024453097.1:c.61961C>A (TTN) | XP_024308865.1:p.Thr20654Lys | |
| XM_024453098.1:c.61880C>A (TTN) | XP_024308866.1:p.Thr20627Lys | |
| XM_024453099.1:c.43643C>A (TTN) | XP_024308867.1:p.Thr14548Lys | |
| XM_024453100.1:c.33497C>A (TTN) | XP_024308868.1:p.Thr11166Lys |