Linked Data
ClinVar Variation Id:
179330
dbSNP Id:
rs727504793
ExAC:
2:179424159 G / A
gnomAD v2:
2-179424159-G-A
gnomAD v3:
2-178559432-G-A
gnomAD v4:
2-178559432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559432G>A , CM000664.2:g.178559432G>A | GRCh38 |
| NC_000002.11:g.179424159G>A , CM000664.1:g.179424159G>A | GRCh37 |
| NC_000002.10:g.179132405G>A | NCBI36 |
| NG_011618.3:g.276371C>T , LRG_391:g.276371C>T | |
| NG_051363.1:g.41606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78996C>T (TTN) | ENSP00000343764.6:p.Asn26332= | |
| ENST00000342175.11:c.60081C>T (TTN) | ENSP00000340554.6:p.Asn20027= | |
| ENST00000359218.10:c.59880C>T (TTN) | ENSP00000352154.5:p.Asn19960= | |
| ENST00000342175.10:c.60081C>T (TTN) | ENSP00000340554.6:p.Asn20027= | |
| ENST00000342992.10:c.78996C>T (TTN) | ENSP00000343764.6:p.Asn26332= | |
| ENST00000359218.9:c.59880C>T (TTN) | ENSP00000352154.5:p.Asn19960= | |
| ENST00000460472.6:c.59505C>T (TTN) | ENSP00000434586.1:p.Asn19835= | |
| ENST00000589042.5:c.86700C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn28900= | |
| ENST00000591111.5:c.81777C>T (TTN) | ENSP00000465570.1:p.Asn27259= | |
| ENST00000615779.4:c.81777C>T (TTN) | ENSP00000483597.1:p.Asn27259= | |
| NM_001256850.1:c.81777C>T (TTN) | NP_001243779.1:p.Asn27259= | |
| NM_001267550.2:c.86700C>T (TTN) MANE Select | NP_001254479.2:p.Asn28900= | |
| NM_003319.4:c.59505C>T (TTN) | NP_003310.4:p.Asn19835= | |
| NM_133378.4:c.78996C>T (TTN) | NP_596869.4:p.Asn26332= | |
| NM_133432.3:c.59880C>T (TTN) | NP_597676.3:p.Asn19960= | |
| NM_133437.4:c.60081C>T (TTN) | NP_597681.4:p.Asn20027= | |
| NR_038271.1:n.447-11868G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17071G>A (TTN-AS1) | ||
| XM_011511729.1:c.85797C>T (TTN) | XP_011510031.1:p.Asn28599= | |
| XM_011511730.1:c.59691C>T (TTN) | XP_011510032.1:p.Asn19897= | |
| XM_011511731.1:c.59550C>T (TTN) | XP_011510033.1:p.Asn19850= | |
| XM_017004819.1:c.85593C>T (TTN) | XP_016860308.1:p.Asn28531= | |
| XM_017004820.1:c.80991C>T (TTN) | XP_016860309.1:p.Asn26997= | |
| XM_017004821.1:c.80988C>T (TTN) | XP_016860310.1:p.Asn26996= | |
| XM_017004822.1:c.78030C>T (TTN) | XP_016860311.1:p.Asn26010= | |
| XM_017004823.1:c.59646C>T (TTN) | XP_016860312.1:p.Asn19882= | |
| XM_024453094.1:c.81141C>T (TTN) | XP_024308862.1:p.Asn27047= | |
| XM_024453095.1:c.81138C>T (TTN) | XP_024308863.1:p.Asn27046= | |
| XM_024453096.1:c.80571C>T (TTN) | XP_024308864.1:p.Asn26857= | |
| XM_024453097.1:c.77913C>T (TTN) | XP_024308865.1:p.Asn25971= | |
| XM_024453098.1:c.77832C>T (TTN) | XP_024308866.1:p.Asn25944= | |
| XM_024453099.1:c.59595C>T (TTN) | XP_024308867.1:p.Asn19865= | |
| XM_024453100.1:c.49449C>T (TTN) | XP_024308868.1:p.Asn16483= |