Linked Data
ClinVar Variation Id:
498378
dbSNP Id:
rs747136342
gnomAD v3:
2-178600918-G-A
gnomAD v4:
2-178600918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178600918G>A , CM000664.2:g.178600918G>A | GRCh38 |
| NC_000002.11:g.179465645G>A , CM000664.1:g.179465645G>A | GRCh37 |
| NC_000002.10:g.179173890G>A | NCBI36 |
| NG_011618.3:g.234885C>T , LRG_391:g.234885C>T | |
| NG_051363.1:g.83092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48282C>T (TTN) | ENSP00000343764.6:p.Val16094= | |
| ENST00000342175.11:c.29367C>T (TTN) | ENSP00000340554.6:p.Val9789= | |
| ENST00000359218.10:c.29166C>T (TTN) | ENSP00000352154.5:p.Val9722= | |
| ENST00000342175.10:c.29367C>T (TTN) | ENSP00000340554.6:p.Val9789= | |
| ENST00000342992.10:c.48282C>T (TTN) | ENSP00000343764.6:p.Val16094= | |
| ENST00000359218.9:c.29166C>T (TTN) | ENSP00000352154.5:p.Val9722= | |
| ENST00000460472.6:c.28791C>T (TTN) | ENSP00000434586.1:p.Val9597= | |
| ENST00000589042.5:c.55986C>T (TTN) MANE Select | ENSP00000467141.1:p.Val18662= | |
| ENST00000591111.5:c.51063C>T (TTN) | ENSP00000465570.1:p.Val17021= | |
| ENST00000615779.4:c.51063C>T (TTN) | ENSP00000483597.1:p.Val17021= | |
| NM_001256850.1:c.51063C>T (TTN) | NP_001243779.1:p.Val17021= | |
| NM_001267550.2:c.55986C>T (TTN) MANE Select | NP_001254479.2:p.Val18662= | |
| NM_003319.4:c.28791C>T (TTN) | NP_003310.4:p.Val9597= | |
| NM_133378.4:c.48282C>T (TTN) | NP_596869.4:p.Val16094= | |
| NM_133432.3:c.29166C>T (TTN) | NP_597676.3:p.Val9722= | |
| NM_133437.4:c.29367C>T (TTN) | NP_597681.4:p.Val9789= | |
| NR_038271.1:n.682+3237G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+251G>A (TTN-AS1) | ||
| XM_011511729.1:c.55083C>T (TTN) | XP_011510031.1:p.Val18361= | |
| XM_011511730.1:c.28977C>T (TTN) | XP_011510032.1:p.Val9659= | |
| XM_011511731.1:c.28836C>T (TTN) | XP_011510033.1:p.Val9612= | |
| XM_017004819.1:c.54879C>T (TTN) | XP_016860308.1:p.Val18293= | |
| XM_017004820.1:c.50277C>T (TTN) | XP_016860309.1:p.Val16759= | |
| XM_017004821.1:c.50274C>T (TTN) | XP_016860310.1:p.Val16758= | |
| XM_017004822.1:c.47316C>T (TTN) | XP_016860311.1:p.Val15772= | |
| XM_017004823.1:c.28932C>T (TTN) | XP_016860312.1:p.Val9644= | |
| XM_024453094.1:c.50427C>T (TTN) | XP_024308862.1:p.Val16809= | |
| XM_024453095.1:c.50424C>T (TTN) | XP_024308863.1:p.Val16808= | |
| XM_024453096.1:c.49857C>T (TTN) | XP_024308864.1:p.Val16619= | |
| XM_024453097.1:c.47199C>T (TTN) | XP_024308865.1:p.Val15733= | |
| XM_024453098.1:c.47118C>T (TTN) | XP_024308866.1:p.Val15706= | |
| XM_024453099.1:c.28881C>T (TTN) | XP_024308867.1:p.Val9627= | |
| XM_024453100.1:c.18735C>T (TTN) | XP_024308868.1:p.Val6245= |