Linked Data
ClinVar Variation Id:
202978
ClinVar RCV Id:
RCV000284310
RCV000339329
RCV000274131
RCV000347762
RCV000457893
RCV000288065
RCV000394225
RCV000725303
RCV002362957
dbSNP Id:
rs751610164
ExAC:
2:179415906 C / T
gnomAD v2:
2-179415906-C-T
gnomAD v3:
2-178551179-C-T
gnomAD v4:
2-178551179-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551179C>T , CM000664.2:g.178551179C>T | GRCh38 |
| NC_000002.11:g.179415906C>T , CM000664.1:g.179415906C>T | GRCh37 |
| NC_000002.10:g.179124152C>T | NCBI36 |
| NG_011618.3:g.284624G>A , LRG_391:g.284624G>A | |
| NG_051363.1:g.33353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83648G>A (TTN) | ENSP00000343764.6:p.Gly27883Asp | |
| ENST00000342175.11:c.64733G>A (TTN) | ENSP00000340554.6:p.Gly21578Asp | |
| ENST00000359218.10:c.64532G>A (TTN) | ENSP00000352154.5:p.Gly21511Asp | |
| ENST00000342175.10:c.64733G>A (TTN) | ENSP00000340554.6:p.Gly21578Asp | |
| ENST00000342992.10:c.83648G>A (TTN) | ENSP00000343764.6:p.Gly27883Asp | |
| ENST00000359218.9:c.64532G>A (TTN) | ENSP00000352154.5:p.Gly21511Asp | |
| ENST00000460472.6:c.64157G>A (TTN) | ENSP00000434586.1:p.Gly21386Asp | |
| ENST00000589042.5:c.91352G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly30451Asp | |
| ENST00000591111.5:c.86429G>A (TTN) | ENSP00000465570.1:p.Gly28810Asp | |
| ENST00000615779.4:c.86429G>A (TTN) | ENSP00000483597.1:p.Gly28810Asp | |
| NM_001256850.1:c.86429G>A (TTN) | NP_001243779.1:p.Gly28810Asp | |
| NM_001267550.2:c.91352G>A (TTN) MANE Select | NP_001254479.2:p.Gly30451Asp | |
| NM_003319.4:c.64157G>A (TTN) | NP_003310.4:p.Gly21386Asp | |
| NM_133378.4:c.83648G>A (TTN) | NP_596869.4:p.Gly27883Asp | |
| NM_133432.3:c.64532G>A (TTN) | NP_597676.3:p.Gly21511Asp | |
| NM_133437.4:c.64733G>A (TTN) | NP_597681.4:p.Gly21578Asp | |
| NR_038271.1:n.447-20121C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+8818C>T (TTN-AS1) | ||
| XM_011511729.1:c.90449G>A (TTN) | XP_011510031.1:p.Gly30150Asp | |
| XM_011511730.1:c.64343G>A (TTN) | XP_011510032.1:p.Gly21448Asp | |
| XM_011511731.1:c.64202G>A (TTN) | XP_011510033.1:p.Gly21401Asp | |
| XM_017004819.1:c.90245G>A (TTN) | XP_016860308.1:p.Gly30082Asp | |
| XM_017004820.1:c.85643G>A (TTN) | XP_016860309.1:p.Gly28548Asp | |
| XM_017004821.1:c.85640G>A (TTN) | XP_016860310.1:p.Gly28547Asp | |
| XM_017004822.1:c.82682G>A (TTN) | XP_016860311.1:p.Gly27561Asp | |
| XM_017004823.1:c.64298G>A (TTN) | XP_016860312.1:p.Gly21433Asp | |
| XM_024453094.1:c.85793G>A (TTN) | XP_024308862.1:p.Gly28598Asp | |
| XM_024453095.1:c.85790G>A (TTN) | XP_024308863.1:p.Gly28597Asp | |
| XM_024453096.1:c.85223G>A (TTN) | XP_024308864.1:p.Gly28408Asp | |
| XM_024453097.1:c.82565G>A (TTN) | XP_024308865.1:p.Gly27522Asp | |
| XM_024453098.1:c.82484G>A (TTN) | XP_024308866.1:p.Gly27495Asp | |
| XM_024453099.1:c.64247G>A (TTN) | XP_024308867.1:p.Gly21416Asp | |
| XM_024453100.1:c.54101G>A (TTN) | XP_024308868.1:p.Gly18034Asp |