Linked Data
ClinVar Variation Id:
467665
ClinVar RCV Id:
RCV000534410
dbSNP Id:
rs879111902
gnomAD v3:
2-178546869-C-T
gnomAD v4:
2-178546869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546869C>T , CM000664.2:g.178546869C>T | GRCh38 |
| NC_000002.11:g.179411596C>T , CM000664.1:g.179411596C>T | GRCh37 |
| NC_000002.10:g.179119842C>T | NCBI36 |
| NG_011618.3:g.288934G>A , LRG_391:g.288934G>A | |
| NG_051363.1:g.29043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86855G>A (TTN) | ENSP00000343764.6:p.Arg28952Lys | |
| ENST00000342175.11:c.67940G>A (TTN) | ENSP00000340554.6:p.Arg22647Lys | |
| ENST00000359218.10:c.67739G>A (TTN) | ENSP00000352154.5:p.Arg22580Lys | |
| ENST00000342175.10:c.67940G>A (TTN) | ENSP00000340554.6:p.Arg22647Lys | |
| ENST00000342992.10:c.86855G>A (TTN) | ENSP00000343764.6:p.Arg28952Lys | |
| ENST00000359218.9:c.67739G>A (TTN) | ENSP00000352154.5:p.Arg22580Lys | |
| ENST00000460472.6:c.67364G>A (TTN) | ENSP00000434586.1:p.Arg22455Lys | |
| ENST00000589042.5:c.94559G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31520Lys | |
| ENST00000591111.5:c.89636G>A (TTN) | ENSP00000465570.1:p.Arg29879Lys | |
| ENST00000615779.4:c.89636G>A (TTN) | ENSP00000483597.1:p.Arg29879Lys | |
| NM_001256850.1:c.89636G>A (TTN) | NP_001243779.1:p.Arg29879Lys | |
| NM_001267550.2:c.94559G>A (TTN) MANE Select | NP_001254479.2:p.Arg31520Lys | |
| NM_003319.4:c.67364G>A (TTN) | NP_003310.4:p.Arg22455Lys | |
| NM_133378.4:c.86855G>A (TTN) | NP_596869.4:p.Arg28952Lys | |
| NM_133432.3:c.67739G>A (TTN) | NP_597676.3:p.Arg22580Lys | |
| NM_133437.4:c.67940G>A (TTN) | NP_597681.4:p.Arg22647Lys | |
| NR_038271.1:n.446+23233C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4508C>T (TTN-AS1) | ||
| XM_011511729.1:c.93656G>A (TTN) | XP_011510031.1:p.Arg31219Lys | |
| XM_011511730.1:c.67550G>A (TTN) | XP_011510032.1:p.Arg22517Lys | |
| XM_011511731.1:c.67409G>A (TTN) | XP_011510033.1:p.Arg22470Lys | |
| XM_017004819.1:c.93452G>A (TTN) | XP_016860308.1:p.Arg31151Lys | |
| XM_017004820.1:c.88850G>A (TTN) | XP_016860309.1:p.Arg29617Lys | |
| XM_017004821.1:c.88847G>A (TTN) | XP_016860310.1:p.Arg29616Lys | |
| XM_017004822.1:c.85889G>A (TTN) | XP_016860311.1:p.Arg28630Lys | |
| XM_017004823.1:c.67505G>A (TTN) | XP_016860312.1:p.Arg22502Lys | |
| XM_024453094.1:c.89000G>A (TTN) | XP_024308862.1:p.Arg29667Lys | |
| XM_024453095.1:c.88997G>A (TTN) | XP_024308863.1:p.Arg29666Lys | |
| XM_024453096.1:c.88430G>A (TTN) | XP_024308864.1:p.Arg29477Lys | |
| XM_024453097.1:c.85772G>A (TTN) | XP_024308865.1:p.Arg28591Lys | |
| XM_024453098.1:c.85691G>A (TTN) | XP_024308866.1:p.Arg28564Lys | |
| XM_024453099.1:c.67454G>A (TTN) | XP_024308867.1:p.Arg22485Lys | |
| XM_024453100.1:c.57308G>A (TTN) | XP_024308868.1:p.Arg19103Lys |