Linked Data
ClinVar Variation Id:
47303
dbSNP Id:
rs397517690
ExAC:
2:179438978 C / T
gnomAD v2:
2-179438978-C-T
gnomAD v3:
2-178574251-C-T
gnomAD v4:
2-178574251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574251C>T , CM000664.2:g.178574251C>T | GRCh38 |
| NC_000002.11:g.179438978C>T , CM000664.1:g.179438978C>T | GRCh37 |
| NC_000002.10:g.179147224C>T | NCBI36 |
| NG_011618.3:g.261552G>A , LRG_391:g.261552G>A | |
| NG_051363.1:g.56425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64177G>A (TTN) | ENSP00000343764.6:p.Val21393Ile | |
| ENST00000342175.11:c.45262G>A (TTN) | ENSP00000340554.6:p.Val15088Ile | |
| ENST00000359218.10:c.45061G>A (TTN) | ENSP00000352154.5:p.Val15021Ile | |
| ENST00000342175.10:c.45262G>A (TTN) | ENSP00000340554.6:p.Val15088Ile | |
| ENST00000342992.10:c.64177G>A (TTN) | ENSP00000343764.6:p.Val21393Ile | |
| ENST00000359218.9:c.45061G>A (TTN) | ENSP00000352154.5:p.Val15021Ile | |
| ENST00000460472.6:c.44686G>A (TTN) | ENSP00000434586.1:p.Val14896Ile | |
| ENST00000589042.5:c.71881G>A (TTN) MANE Select | ENSP00000467141.1:p.Val23961Ile | |
| ENST00000591111.5:c.66958G>A (TTN) | ENSP00000465570.1:p.Val22320Ile | |
| ENST00000615779.4:c.66958G>A (TTN) | ENSP00000483597.1:p.Val22320Ile | |
| NM_001256850.1:c.66958G>A (TTN) | NP_001243779.1:p.Val22320Ile | |
| NM_001267550.2:c.71881G>A (TTN) MANE Select | NP_001254479.2:p.Val23961Ile | |
| NM_003319.4:c.44686G>A (TTN) | NP_003310.4:p.Val14896Ile | |
| NM_133378.4:c.64177G>A (TTN) | NP_596869.4:p.Val21393Ile | |
| NM_133432.3:c.45061G>A (TTN) | NP_597676.3:p.Val15021Ile | |
| NM_133437.4:c.45262G>A (TTN) | NP_597681.4:p.Val15088Ile | |
| NR_038271.1:n.596+2802C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8321C>T (TTN-AS1) | ||
| XM_011511729.1:c.70978G>A (TTN) | XP_011510031.1:p.Val23660Ile | |
| XM_011511730.1:c.44872G>A (TTN) | XP_011510032.1:p.Val14958Ile | |
| XM_011511731.1:c.44731G>A (TTN) | XP_011510033.1:p.Val14911Ile | |
| XM_017004819.1:c.70774G>A (TTN) | XP_016860308.1:p.Val23592Ile | |
| XM_017004820.1:c.66172G>A (TTN) | XP_016860309.1:p.Val22058Ile | |
| XM_017004821.1:c.66169G>A (TTN) | XP_016860310.1:p.Val22057Ile | |
| XM_017004822.1:c.63211G>A (TTN) | XP_016860311.1:p.Val21071Ile | |
| XM_017004823.1:c.44827G>A (TTN) | XP_016860312.1:p.Val14943Ile | |
| XM_024453094.1:c.66322G>A (TTN) | XP_024308862.1:p.Val22108Ile | |
| XM_024453095.1:c.66319G>A (TTN) | XP_024308863.1:p.Val22107Ile | |
| XM_024453096.1:c.65752G>A (TTN) | XP_024308864.1:p.Val21918Ile | |
| XM_024453097.1:c.63094G>A (TTN) | XP_024308865.1:p.Val21032Ile | |
| XM_024453098.1:c.63013G>A (TTN) | XP_024308866.1:p.Val21005Ile | |
| XM_024453099.1:c.44776G>A (TTN) | XP_024308867.1:p.Val14926Ile | |
| XM_024453100.1:c.34630G>A (TTN) | XP_024308868.1:p.Val11544Ile |