Linked Data
ClinVar Variation Id:
1755863
ClinVar RCV Id:
RCV002362171
dbSNP Id:
rs761732372
ExAC:
2:179409080 A / T
gnomAD v2:
2-179409080-A-T
gnomAD v3:
2-178544353-A-T
gnomAD v4:
2-178544353-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544353A>T , CM000664.2:g.178544353A>T | GRCh38 |
| NC_000002.11:g.179409080A>T , CM000664.1:g.179409080A>T | GRCh37 |
| NC_000002.10:g.179117326A>T | NCBI36 |
| NG_011618.3:g.291450T>A , LRG_391:g.291450T>A | |
| NG_051363.1:g.26527A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88172T>A (TTN) | ENSP00000343764.6:p.Val29391Glu | |
| ENST00000342175.11:c.69257T>A (TTN) | ENSP00000340554.6:p.Val23086Glu | |
| ENST00000359218.10:c.69056T>A (TTN) | ENSP00000352154.5:p.Val23019Glu | |
| ENST00000342175.10:c.69257T>A (TTN) | ENSP00000340554.6:p.Val23086Glu | |
| ENST00000342992.10:c.88172T>A (TTN) | ENSP00000343764.6:p.Val29391Glu | |
| ENST00000359218.9:c.69056T>A (TTN) | ENSP00000352154.5:p.Val23019Glu | |
| ENST00000460472.6:c.68681T>A (TTN) | ENSP00000434586.1:p.Val22894Glu | |
| ENST00000589042.5:c.95876T>A (TTN) MANE Select | ENSP00000467141.1:p.Val31959Glu | |
| ENST00000591111.5:c.90953T>A (TTN) | ENSP00000465570.1:p.Val30318Glu | |
| ENST00000615779.4:c.90953T>A (TTN) | ENSP00000483597.1:p.Val30318Glu | |
| NM_001256850.1:c.90953T>A (TTN) | NP_001243779.1:p.Val30318Glu | |
| NM_001267550.2:c.95876T>A (TTN) MANE Select | NP_001254479.2:p.Val31959Glu | |
| NM_003319.4:c.68681T>A (TTN) | NP_003310.4:p.Val22894Glu | |
| NM_133378.4:c.88172T>A (TTN) | NP_596869.4:p.Val29391Glu | |
| NM_133432.3:c.69056T>A (TTN) | NP_597676.3:p.Val23019Glu | |
| NM_133437.4:c.69257T>A (TTN) | NP_597681.4:p.Val23086Glu | |
| NR_038271.1:n.446+20717A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1992A>T (TTN-AS1) | ||
| XM_011511729.1:c.94973T>A (TTN) | XP_011510031.1:p.Val31658Glu | |
| XM_011511730.1:c.68867T>A (TTN) | XP_011510032.1:p.Val22956Glu | |
| XM_011511731.1:c.68726T>A (TTN) | XP_011510033.1:p.Val22909Glu | |
| XM_017004819.1:c.94769T>A (TTN) | XP_016860308.1:p.Val31590Glu | |
| XM_017004820.1:c.90167T>A (TTN) | XP_016860309.1:p.Val30056Glu | |
| XM_017004821.1:c.90164T>A (TTN) | XP_016860310.1:p.Val30055Glu | |
| XM_017004822.1:c.87206T>A (TTN) | XP_016860311.1:p.Val29069Glu | |
| XM_017004823.1:c.68822T>A (TTN) | XP_016860312.1:p.Val22941Glu | |
| XM_024453094.1:c.90317T>A (TTN) | XP_024308862.1:p.Val30106Glu | |
| XM_024453095.1:c.90314T>A (TTN) | XP_024308863.1:p.Val30105Glu | |
| XM_024453096.1:c.89747T>A (TTN) | XP_024308864.1:p.Val29916Glu | |
| XM_024453097.1:c.87089T>A (TTN) | XP_024308865.1:p.Val29030Glu | |
| XM_024453098.1:c.87008T>A (TTN) | XP_024308866.1:p.Val29003Glu | |
| XM_024453099.1:c.68771T>A (TTN) | XP_024308867.1:p.Val22924Glu | |
| XM_024453100.1:c.58625T>A (TTN) | XP_024308868.1:p.Val19542Glu |