Linked Data
ClinVar Variation Id:
202764
dbSNP Id:
rs377203669
ExAC:
2:179453729 C / T
gnomAD v2:
2-179453729-C-T
gnomAD v3:
2-178589002-C-T
gnomAD v4:
2-178589002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589002C>T , CM000664.2:g.178589002C>T | GRCh38 |
| NC_000002.11:g.179453729C>T , CM000664.1:g.179453729C>T | GRCh37 |
| NC_000002.10:g.179161975C>T | NCBI36 |
| NG_011618.3:g.246801G>A , LRG_391:g.246801G>A | |
| NG_051363.1:g.71176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55019G>A (TTN) | ENSP00000343764.6:p.Arg18340Gln | |
| ENST00000342175.11:c.36104G>A (TTN) | ENSP00000340554.6:p.Arg12035Gln | |
| ENST00000359218.10:c.35903G>A (TTN) | ENSP00000352154.5:p.Arg11968Gln | |
| ENST00000342175.10:c.36104G>A (TTN) | ENSP00000340554.6:p.Arg12035Gln | |
| ENST00000342992.10:c.55019G>A (TTN) | ENSP00000343764.6:p.Arg18340Gln | |
| ENST00000359218.9:c.35903G>A (TTN) | ENSP00000352154.5:p.Arg11968Gln | |
| ENST00000460472.6:c.35528G>A (TTN) | ENSP00000434586.1:p.Arg11843Gln | |
| ENST00000589042.5:c.62723G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20908Gln | |
| ENST00000591111.5:c.57800G>A (TTN) | ENSP00000465570.1:p.Arg19267Gln | |
| ENST00000615779.4:c.57800G>A (TTN) | ENSP00000483597.1:p.Arg19267Gln | |
| NM_001256850.1:c.57800G>A (TTN) | NP_001243779.1:p.Arg19267Gln | |
| NM_001267550.2:c.62723G>A (TTN) MANE Select | NP_001254479.2:p.Arg20908Gln | |
| NM_003319.4:c.35528G>A (TTN) | NP_003310.4:p.Arg11843Gln | |
| NM_133378.4:c.55019G>A (TTN) | NP_596869.4:p.Arg18340Gln | |
| NM_133432.3:c.35903G>A (TTN) | NP_597676.3:p.Arg11968Gln | |
| NM_133437.4:c.36104G>A (TTN) | NP_597681.4:p.Arg12035Gln | |
| NR_038271.1:n.597-8594C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-2137C>T (TTN-AS1) | ||
| XM_011511729.1:c.61820G>A (TTN) | XP_011510031.1:p.Arg20607Gln | |
| XM_011511730.1:c.35714G>A (TTN) | XP_011510032.1:p.Arg11905Gln | |
| XM_011511731.1:c.35573G>A (TTN) | XP_011510033.1:p.Arg11858Gln | |
| XM_017004819.1:c.61616G>A (TTN) | XP_016860308.1:p.Arg20539Gln | |
| XM_017004820.1:c.57014G>A (TTN) | XP_016860309.1:p.Arg19005Gln | |
| XM_017004821.1:c.57011G>A (TTN) | XP_016860310.1:p.Arg19004Gln | |
| XM_017004822.1:c.54053G>A (TTN) | XP_016860311.1:p.Arg18018Gln | |
| XM_017004823.1:c.35669G>A (TTN) | XP_016860312.1:p.Arg11890Gln | |
| XM_024453094.1:c.57164G>A (TTN) | XP_024308862.1:p.Arg19055Gln | |
| XM_024453095.1:c.57161G>A (TTN) | XP_024308863.1:p.Arg19054Gln | |
| XM_024453096.1:c.56594G>A (TTN) | XP_024308864.1:p.Arg18865Gln | |
| XM_024453097.1:c.53936G>A (TTN) | XP_024308865.1:p.Arg17979Gln | |
| XM_024453098.1:c.53855G>A (TTN) | XP_024308866.1:p.Arg17952Gln | |
| XM_024453099.1:c.35618G>A (TTN) | XP_024308867.1:p.Arg11873Gln | |
| XM_024453100.1:c.25472G>A (TTN) | XP_024308868.1:p.Arg8491Gln |