Linked Data
ClinVar Variation Id:
47493
dbSNP Id:
rs397517746
ExAC:
2:179417680 C / T
gnomAD v2:
2-179417680-C-T
gnomAD v3:
2-178552953-C-T
gnomAD v4:
2-178552953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552953C>T , CM000664.2:g.178552953C>T | GRCh38 |
| NC_000002.11:g.179417680C>T , CM000664.1:g.179417680C>T | GRCh37 |
| NC_000002.10:g.179125926C>T | NCBI36 |
| NG_011618.3:g.282850G>A , LRG_391:g.282850G>A | |
| NG_051363.1:g.35127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82243G>A (TTN) | ENSP00000343764.6:p.Val27415Met | |
| ENST00000342175.11:c.63328G>A (TTN) | ENSP00000340554.6:p.Val21110Met | |
| ENST00000359218.10:c.63127G>A (TTN) | ENSP00000352154.5:p.Val21043Met | |
| ENST00000342175.10:c.63328G>A (TTN) | ENSP00000340554.6:p.Val21110Met | |
| ENST00000342992.10:c.82243G>A (TTN) | ENSP00000343764.6:p.Val27415Met | |
| ENST00000359218.9:c.63127G>A (TTN) | ENSP00000352154.5:p.Val21043Met | |
| ENST00000460472.6:c.62752G>A (TTN) | ENSP00000434586.1:p.Val20918Met | |
| ENST00000589042.5:c.89947G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29983Met | |
| ENST00000591111.5:c.85024G>A (TTN) | ENSP00000465570.1:p.Val28342Met | |
| ENST00000615779.4:c.85024G>A (TTN) | ENSP00000483597.1:p.Val28342Met | |
| NM_001256850.1:c.85024G>A (TTN) | NP_001243779.1:p.Val28342Met | |
| NM_001267550.2:c.89947G>A (TTN) MANE Select | NP_001254479.2:p.Val29983Met | |
| NM_003319.4:c.62752G>A (TTN) | NP_003310.4:p.Val20918Met | |
| NM_133378.4:c.82243G>A (TTN) | NP_596869.4:p.Val27415Met | |
| NM_133432.3:c.63127G>A (TTN) | NP_597676.3:p.Val21043Met | |
| NM_133437.4:c.63328G>A (TTN) | NP_597681.4:p.Val21110Met | |
| NR_038271.1:n.447-18347C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+10592C>T (TTN-AS1) | ||
| XM_011511729.1:c.89044G>A (TTN) | XP_011510031.1:p.Val29682Met | |
| XM_011511730.1:c.62938G>A (TTN) | XP_011510032.1:p.Val20980Met | |
| XM_011511731.1:c.62797G>A (TTN) | XP_011510033.1:p.Val20933Met | |
| XM_017004819.1:c.88840G>A (TTN) | XP_016860308.1:p.Val29614Met | |
| XM_017004820.1:c.84238G>A (TTN) | XP_016860309.1:p.Val28080Met | |
| XM_017004821.1:c.84235G>A (TTN) | XP_016860310.1:p.Val28079Met | |
| XM_017004822.1:c.81277G>A (TTN) | XP_016860311.1:p.Val27093Met | |
| XM_017004823.1:c.62893G>A (TTN) | XP_016860312.1:p.Val20965Met | |
| XM_024453094.1:c.84388G>A (TTN) | XP_024308862.1:p.Val28130Met | |
| XM_024453095.1:c.84385G>A (TTN) | XP_024308863.1:p.Val28129Met | |
| XM_024453096.1:c.83818G>A (TTN) | XP_024308864.1:p.Val27940Met | |
| XM_024453097.1:c.81160G>A (TTN) | XP_024308865.1:p.Val27054Met | |
| XM_024453098.1:c.81079G>A (TTN) | XP_024308866.1:p.Val27027Met | |
| XM_024453099.1:c.62842G>A (TTN) | XP_024308867.1:p.Val20948Met | |
| XM_024453100.1:c.52696G>A (TTN) | XP_024308868.1:p.Val17566Met |