Linked Data
ClinVar Variation Id:
96298
ClinVar RCV Id:
RCV000082422
RCV000243614
RCV000209613
RCV000461211
RCV000765553
RCV000725504
RCV001131153
RCV001131152
RCV001131150
RCV001131151
RCV001134109
RCV003486642
dbSNP Id:
rs199506676
ExAC:
2:179442329 C / T
gnomAD v2:
2-179442329-C-T
gnomAD v3:
2-178577602-C-T
gnomAD v4:
2-178577602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577602C>T , CM000664.2:g.178577602C>T | GRCh38 |
| NC_000002.11:g.179442329C>T , CM000664.1:g.179442329C>T | GRCh37 |
| NC_000002.10:g.179150575C>T | NCBI36 |
| NG_011618.3:g.258201G>A , LRG_391:g.258201G>A | |
| NG_051363.1:g.59776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61120G>A (TTN) | ENSP00000343764.6:p.Glu20374Lys | |
| ENST00000342175.11:c.42205G>A (TTN) | ENSP00000340554.6:p.Glu14069Lys | |
| ENST00000359218.10:c.42004G>A (TTN) | ENSP00000352154.5:p.Glu14002Lys | |
| ENST00000342175.10:c.42205G>A (TTN) | ENSP00000340554.6:p.Glu14069Lys | |
| ENST00000342992.10:c.61120G>A (TTN) | ENSP00000343764.6:p.Glu20374Lys | |
| ENST00000359218.9:c.42004G>A (TTN) | ENSP00000352154.5:p.Glu14002Lys | |
| ENST00000460472.6:c.41629G>A (TTN) | ENSP00000434586.1:p.Glu13877Lys | |
| ENST00000589042.5:c.68824G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu22942Lys | |
| ENST00000591111.5:c.63901G>A (TTN) | ENSP00000465570.1:p.Glu21301Lys | |
| ENST00000615779.4:c.63901G>A (TTN) | ENSP00000483597.1:p.Glu21301Lys | |
| NM_001256850.1:c.63901G>A (TTN) | NP_001243779.1:p.Glu21301Lys | |
| NM_001267550.2:c.68824G>A (TTN) MANE Select | NP_001254479.2:p.Glu22942Lys | |
| NM_003319.4:c.41629G>A (TTN) | NP_003310.4:p.Glu13877Lys | |
| NM_133378.4:c.61120G>A (TTN) | NP_596869.4:p.Glu20374Lys | |
| NM_133432.3:c.42004G>A (TTN) | NP_597676.3:p.Glu14002Lys | |
| NM_133437.4:c.42205G>A (TTN) | NP_597681.4:p.Glu14069Lys | |
| NR_038271.1:n.596+6153C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4970C>T (TTN-AS1) | ||
| XM_011511729.1:c.67921G>A (TTN) | XP_011510031.1:p.Glu22641Lys | |
| XM_011511730.1:c.41815G>A (TTN) | XP_011510032.1:p.Glu13939Lys | |
| XM_011511731.1:c.41674G>A (TTN) | XP_011510033.1:p.Glu13892Lys | |
| XM_017004819.1:c.67717G>A (TTN) | XP_016860308.1:p.Glu22573Lys | |
| XM_017004820.1:c.63115G>A (TTN) | XP_016860309.1:p.Glu21039Lys | |
| XM_017004821.1:c.63112G>A (TTN) | XP_016860310.1:p.Glu21038Lys | |
| XM_017004822.1:c.60154G>A (TTN) | XP_016860311.1:p.Glu20052Lys | |
| XM_017004823.1:c.41770G>A (TTN) | XP_016860312.1:p.Glu13924Lys | |
| XM_024453094.1:c.63265G>A (TTN) | XP_024308862.1:p.Glu21089Lys | |
| XM_024453095.1:c.63262G>A (TTN) | XP_024308863.1:p.Glu21088Lys | |
| XM_024453096.1:c.62695G>A (TTN) | XP_024308864.1:p.Glu20899Lys | |
| XM_024453097.1:c.60037G>A (TTN) | XP_024308865.1:p.Glu20013Lys | |
| XM_024453098.1:c.59956G>A (TTN) | XP_024308866.1:p.Glu19986Lys | |
| XM_024453099.1:c.41719G>A (TTN) | XP_024308867.1:p.Glu13907Lys | |
| XM_024453100.1:c.31573G>A (TTN) | XP_024308868.1:p.Glu10525Lys |