Linked Data
ClinVar Variation Id:
228162
dbSNP Id:
rs373311459
ExAC:
2:179417681 G / A
gnomAD v2:
2-179417681-G-A
gnomAD v3:
2-178552954-G-A
gnomAD v4:
2-178552954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552954G>A , CM000664.2:g.178552954G>A | GRCh38 |
| NC_000002.11:g.179417681G>A , CM000664.1:g.179417681G>A | GRCh37 |
| NC_000002.10:g.179125927G>A | NCBI36 |
| NG_011618.3:g.282849C>T , LRG_391:g.282849C>T | |
| NG_051363.1:g.35128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82242C>T (TTN) | ENSP00000343764.6:p.Val27414= | |
| ENST00000342175.11:c.63327C>T (TTN) | ENSP00000340554.6:p.Val21109= | |
| ENST00000359218.10:c.63126C>T (TTN) | ENSP00000352154.5:p.Val21042= | |
| ENST00000342175.10:c.63327C>T (TTN) | ENSP00000340554.6:p.Val21109= | |
| ENST00000342992.10:c.82242C>T (TTN) | ENSP00000343764.6:p.Val27414= | |
| ENST00000359218.9:c.63126C>T (TTN) | ENSP00000352154.5:p.Val21042= | |
| ENST00000460472.6:c.62751C>T (TTN) | ENSP00000434586.1:p.Val20917= | |
| ENST00000589042.5:c.89946C>T (TTN) MANE Select | ENSP00000467141.1:p.Val29982= | |
| ENST00000591111.5:c.85023C>T (TTN) | ENSP00000465570.1:p.Val28341= | |
| ENST00000615779.4:c.85023C>T (TTN) | ENSP00000483597.1:p.Val28341= | |
| NM_001256850.1:c.85023C>T (TTN) | NP_001243779.1:p.Val28341= | |
| NM_001267550.2:c.89946C>T (TTN) MANE Select | NP_001254479.2:p.Val29982= | |
| NM_003319.4:c.62751C>T (TTN) | NP_003310.4:p.Val20917= | |
| NM_133378.4:c.82242C>T (TTN) | NP_596869.4:p.Val27414= | |
| NM_133432.3:c.63126C>T (TTN) | NP_597676.3:p.Val21042= | |
| NM_133437.4:c.63327C>T (TTN) | NP_597681.4:p.Val21109= | |
| NR_038271.1:n.447-18346G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+10593G>A (TTN-AS1) | ||
| XM_011511729.1:c.89043C>T (TTN) | XP_011510031.1:p.Val29681= | |
| XM_011511730.1:c.62937C>T (TTN) | XP_011510032.1:p.Val20979= | |
| XM_011511731.1:c.62796C>T (TTN) | XP_011510033.1:p.Val20932= | |
| XM_017004819.1:c.88839C>T (TTN) | XP_016860308.1:p.Val29613= | |
| XM_017004820.1:c.84237C>T (TTN) | XP_016860309.1:p.Val28079= | |
| XM_017004821.1:c.84234C>T (TTN) | XP_016860310.1:p.Val28078= | |
| XM_017004822.1:c.81276C>T (TTN) | XP_016860311.1:p.Val27092= | |
| XM_017004823.1:c.62892C>T (TTN) | XP_016860312.1:p.Val20964= | |
| XM_024453094.1:c.84387C>T (TTN) | XP_024308862.1:p.Val28129= | |
| XM_024453095.1:c.84384C>T (TTN) | XP_024308863.1:p.Val28128= | |
| XM_024453096.1:c.83817C>T (TTN) | XP_024308864.1:p.Val27939= | |
| XM_024453097.1:c.81159C>T (TTN) | XP_024308865.1:p.Val27053= | |
| XM_024453098.1:c.81078C>T (TTN) | XP_024308866.1:p.Val27026= | |
| XM_024453099.1:c.62841C>T (TTN) | XP_024308867.1:p.Val20947= | |
| XM_024453100.1:c.52695C>T (TTN) | XP_024308868.1:p.Val17565= |