Linked Data
ClinVar Variation Id:
500616
dbSNP Id:
rs372799151
ExAC:
2:179440956 G / A
gnomAD v2:
2-179440956-G-A
gnomAD v3:
2-178576229-G-A
gnomAD v4:
2-178576229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576229G>A , CM000664.2:g.178576229G>A | GRCh38 |
| NC_000002.11:g.179440956G>A , CM000664.1:g.179440956G>A | GRCh37 |
| NC_000002.10:g.179149202G>A | NCBI36 |
| NG_011618.3:g.259574C>T , LRG_391:g.259574C>T | |
| NG_051363.1:g.58403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62199C>T (TTN) | ENSP00000343764.6:p.Phe20733= | |
| ENST00000342175.11:c.43284C>T (TTN) | ENSP00000340554.6:p.Phe14428= | |
| ENST00000359218.10:c.43083C>T (TTN) | ENSP00000352154.5:p.Phe14361= | |
| ENST00000342175.10:c.43284C>T (TTN) | ENSP00000340554.6:p.Phe14428= | |
| ENST00000342992.10:c.62199C>T (TTN) | ENSP00000343764.6:p.Phe20733= | |
| ENST00000359218.9:c.43083C>T (TTN) | ENSP00000352154.5:p.Phe14361= | |
| ENST00000460472.6:c.42708C>T (TTN) | ENSP00000434586.1:p.Phe14236= | |
| ENST00000589042.5:c.69903C>T (TTN) MANE Select | ENSP00000467141.1:p.Phe23301= | |
| ENST00000591111.5:c.64980C>T (TTN) | ENSP00000465570.1:p.Phe21660= | |
| ENST00000615779.4:c.64980C>T (TTN) | ENSP00000483597.1:p.Phe21660= | |
| NM_001256850.1:c.64980C>T (TTN) | NP_001243779.1:p.Phe21660= | |
| NM_001267550.2:c.69903C>T (TTN) MANE Select | NP_001254479.2:p.Phe23301= | |
| NM_003319.4:c.42708C>T (TTN) | NP_003310.4:p.Phe14236= | |
| NM_133378.4:c.62199C>T (TTN) | NP_596869.4:p.Phe20733= | |
| NM_133432.3:c.43083C>T (TTN) | NP_597676.3:p.Phe14361= | |
| NM_133437.4:c.43284C>T (TTN) | NP_597681.4:p.Phe14428= | |
| NR_038271.1:n.596+4780G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-6343G>A (TTN-AS1) | ||
| XM_011511729.1:c.69000C>T (TTN) | XP_011510031.1:p.Phe23000= | |
| XM_011511730.1:c.42894C>T (TTN) | XP_011510032.1:p.Phe14298= | |
| XM_011511731.1:c.42753C>T (TTN) | XP_011510033.1:p.Phe14251= | |
| XM_017004819.1:c.68796C>T (TTN) | XP_016860308.1:p.Phe22932= | |
| XM_017004820.1:c.64194C>T (TTN) | XP_016860309.1:p.Phe21398= | |
| XM_017004821.1:c.64191C>T (TTN) | XP_016860310.1:p.Phe21397= | |
| XM_017004822.1:c.61233C>T (TTN) | XP_016860311.1:p.Phe20411= | |
| XM_017004823.1:c.42849C>T (TTN) | XP_016860312.1:p.Phe14283= | |
| XM_024453094.1:c.64344C>T (TTN) | XP_024308862.1:p.Phe21448= | |
| XM_024453095.1:c.64341C>T (TTN) | XP_024308863.1:p.Phe21447= | |
| XM_024453096.1:c.63774C>T (TTN) | XP_024308864.1:p.Phe21258= | |
| XM_024453097.1:c.61116C>T (TTN) | XP_024308865.1:p.Phe20372= | |
| XM_024453098.1:c.61035C>T (TTN) | XP_024308866.1:p.Phe20345= | |
| XM_024453099.1:c.42798C>T (TTN) | XP_024308867.1:p.Phe14266= | |
| XM_024453100.1:c.32652C>T (TTN) | XP_024308868.1:p.Phe10884= |