Linked Data
ClinVar Variation Id:
535627
dbSNP Id:
rs750803038
ExAC:
2:179412879 G / A
gnomAD v2:
2-179412879-G-A
gnomAD v3:
2-178548152-G-A
gnomAD v4:
2-178548152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548152G>A , CM000664.2:g.178548152G>A | GRCh38 |
| NC_000002.11:g.179412879G>A , CM000664.1:g.179412879G>A | GRCh37 |
| NC_000002.10:g.179121125G>A | NCBI36 |
| NG_011618.3:g.287651C>T , LRG_391:g.287651C>T | |
| NG_051363.1:g.30326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85770C>T (TTN) | ENSP00000343764.6:p.Asp28590= | |
| ENST00000342175.11:c.66855C>T (TTN) | ENSP00000340554.6:p.Asp22285= | |
| ENST00000359218.10:c.66654C>T (TTN) | ENSP00000352154.5:p.Asp22218= | |
| ENST00000342175.10:c.66855C>T (TTN) | ENSP00000340554.6:p.Asp22285= | |
| ENST00000342992.10:c.85770C>T (TTN) | ENSP00000343764.6:p.Asp28590= | |
| ENST00000359218.9:c.66654C>T (TTN) | ENSP00000352154.5:p.Asp22218= | |
| ENST00000460472.6:c.66279C>T (TTN) | ENSP00000434586.1:p.Asp22093= | |
| ENST00000589042.5:c.93474C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp31158= | |
| ENST00000591111.5:c.88551C>T (TTN) | ENSP00000465570.1:p.Asp29517= | |
| ENST00000615779.4:c.88551C>T (TTN) | ENSP00000483597.1:p.Asp29517= | |
| NM_001256850.1:c.88551C>T (TTN) | NP_001243779.1:p.Asp29517= | |
| NM_001267550.2:c.93474C>T (TTN) MANE Select | NP_001254479.2:p.Asp31158= | |
| NM_003319.4:c.66279C>T (TTN) | NP_003310.4:p.Asp22093= | |
| NM_133378.4:c.85770C>T (TTN) | NP_596869.4:p.Asp28590= | |
| NM_133432.3:c.66654C>T (TTN) | NP_597676.3:p.Asp22218= | |
| NM_133437.4:c.66855C>T (TTN) | NP_597681.4:p.Asp22285= | |
| NR_038271.1:n.447-23148G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5791G>A (TTN-AS1) | ||
| XM_011511729.1:c.92571C>T (TTN) | XP_011510031.1:p.Asp30857= | |
| XM_011511730.1:c.66465C>T (TTN) | XP_011510032.1:p.Asp22155= | |
| XM_011511731.1:c.66324C>T (TTN) | XP_011510033.1:p.Asp22108= | |
| XM_017004819.1:c.92367C>T (TTN) | XP_016860308.1:p.Asp30789= | |
| XM_017004820.1:c.87765C>T (TTN) | XP_016860309.1:p.Asp29255= | |
| XM_017004821.1:c.87762C>T (TTN) | XP_016860310.1:p.Asp29254= | |
| XM_017004822.1:c.84804C>T (TTN) | XP_016860311.1:p.Asp28268= | |
| XM_017004823.1:c.66420C>T (TTN) | XP_016860312.1:p.Asp22140= | |
| XM_024453094.1:c.87915C>T (TTN) | XP_024308862.1:p.Asp29305= | |
| XM_024453095.1:c.87912C>T (TTN) | XP_024308863.1:p.Asp29304= | |
| XM_024453096.1:c.87345C>T (TTN) | XP_024308864.1:p.Asp29115= | |
| XM_024453097.1:c.84687C>T (TTN) | XP_024308865.1:p.Asp28229= | |
| XM_024453098.1:c.84606C>T (TTN) | XP_024308866.1:p.Asp28202= | |
| XM_024453099.1:c.66369C>T (TTN) | XP_024308867.1:p.Asp22123= | |
| XM_024453100.1:c.56223C>T (TTN) | XP_024308868.1:p.Asp18741= |