Linked Data
ClinVar Variation Id:
202722
dbSNP Id:
rs192788942
ExAC:
2:179467050 G / A
gnomAD v2:
2-179467050-G-A
gnomAD v3:
2-178602323-G-A
gnomAD v4:
2-178602323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602323G>A , CM000664.2:g.178602323G>A | GRCh38 |
| NC_000002.11:g.179467050G>A , CM000664.1:g.179467050G>A | GRCh37 |
| NC_000002.10:g.179175295G>A | NCBI36 |
| NG_011618.3:g.233480C>T , LRG_391:g.233480C>T | |
| NG_051363.1:g.84497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47375C>T (TTN) | ENSP00000343764.6:p.Pro15792Leu | |
| ENST00000342175.11:c.28460C>T (TTN) | ENSP00000340554.6:p.Pro9487Leu | |
| ENST00000359218.10:c.28259C>T (TTN) | ENSP00000352154.5:p.Pro9420Leu | |
| ENST00000342175.10:c.28460C>T (TTN) | ENSP00000340554.6:p.Pro9487Leu | |
| ENST00000342992.10:c.47375C>T (TTN) | ENSP00000343764.6:p.Pro15792Leu | |
| ENST00000359218.9:c.28259C>T (TTN) | ENSP00000352154.5:p.Pro9420Leu | |
| ENST00000460472.6:c.27884C>T (TTN) | ENSP00000434586.1:p.Pro9295Leu | |
| ENST00000589042.5:c.55079C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro18360Leu | |
| ENST00000591111.5:c.50156C>T (TTN) | ENSP00000465570.1:p.Pro16719Leu | |
| ENST00000615779.4:c.50156C>T (TTN) | ENSP00000483597.1:p.Pro16719Leu | |
| NM_001256850.1:c.50156C>T (TTN) | NP_001243779.1:p.Pro16719Leu | |
| NM_001267550.2:c.55079C>T (TTN) MANE Select | NP_001254479.2:p.Pro18360Leu | |
| NM_003319.4:c.27884C>T (TTN) | NP_003310.4:p.Pro9295Leu | |
| NM_133378.4:c.47375C>T (TTN) | NP_596869.4:p.Pro15792Leu | |
| NM_133432.3:c.28259C>T (TTN) | NP_597676.3:p.Pro9420Leu | |
| NM_133437.4:c.28460C>T (TTN) | NP_597681.4:p.Pro9487Leu | |
| NR_038271.1:n.682+4642G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1656G>A (TTN-AS1) | ||
| XM_011511729.1:c.54176C>T (TTN) | XP_011510031.1:p.Pro18059Leu | |
| XM_011511730.1:c.28070C>T (TTN) | XP_011510032.1:p.Pro9357Leu | |
| XM_011511731.1:c.27929C>T (TTN) | XP_011510033.1:p.Pro9310Leu | |
| XM_017004819.1:c.53972C>T (TTN) | XP_016860308.1:p.Pro17991Leu | |
| XM_017004820.1:c.49370C>T (TTN) | XP_016860309.1:p.Pro16457Leu | |
| XM_017004821.1:c.49367C>T (TTN) | XP_016860310.1:p.Pro16456Leu | |
| XM_017004822.1:c.46409C>T (TTN) | XP_016860311.1:p.Pro15470Leu | |
| XM_017004823.1:c.28025C>T (TTN) | XP_016860312.1:p.Pro9342Leu | |
| XM_024453094.1:c.49520C>T (TTN) | XP_024308862.1:p.Pro16507Leu | |
| XM_024453095.1:c.49517C>T (TTN) | XP_024308863.1:p.Pro16506Leu | |
| XM_024453096.1:c.48950C>T (TTN) | XP_024308864.1:p.Pro16317Leu | |
| XM_024453097.1:c.46292C>T (TTN) | XP_024308865.1:p.Pro15431Leu | |
| XM_024453098.1:c.46211C>T (TTN) | XP_024308866.1:p.Pro15404Leu | |
| XM_024453099.1:c.27974C>T (TTN) | XP_024308867.1:p.Pro9325Leu | |
| XM_024453100.1:c.17828C>T (TTN) | XP_024308868.1:p.Pro5943Leu |