Linked Data
ClinVar Variation Id:
47155
ClinVar RCV Id:
RCV000040425
RCV000266817
RCV000305690
RCV000353482
RCV000359114
RCV000302100
RCV000714060
RCV001086691
RCV004541164
RCV002321527
dbSNP Id:
rs72646842
ExAC:
2:179456796 G / A
gnomAD v2:
2-179456796-G-A
gnomAD v3:
2-178592069-G-A
gnomAD v4:
2-178592069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592069G>A , CM000664.2:g.178592069G>A | GRCh38 |
| NC_000002.11:g.179456796G>A , CM000664.1:g.179456796G>A | GRCh37 |
| NC_000002.10:g.179165042G>A | NCBI36 |
| NG_011618.3:g.243734C>T , LRG_391:g.243734C>T | |
| NG_051363.1:g.74243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52131C>T (TTN) | ENSP00000343764.6:p.Asn17377= | |
| ENST00000342175.11:c.33216C>T (TTN) | ENSP00000340554.6:p.Asn11072= | |
| ENST00000359218.10:c.33015C>T (TTN) | ENSP00000352154.5:p.Asn11005= | |
| ENST00000342175.10:c.33216C>T (TTN) | ENSP00000340554.6:p.Asn11072= | |
| ENST00000342992.10:c.52131C>T (TTN) | ENSP00000343764.6:p.Asn17377= | |
| ENST00000359218.9:c.33015C>T (TTN) | ENSP00000352154.5:p.Asn11005= | |
| ENST00000460472.6:c.32640C>T (TTN) | ENSP00000434586.1:p.Asn10880= | |
| ENST00000589042.5:c.59835C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn19945= | |
| ENST00000591111.5:c.54912C>T (TTN) | ENSP00000465570.1:p.Asn18304= | |
| ENST00000615779.4:c.54912C>T (TTN) | ENSP00000483597.1:p.Asn18304= | |
| NM_001256850.1:c.54912C>T (TTN) | NP_001243779.1:p.Asn18304= | |
| NM_001267550.2:c.59835C>T (TTN) MANE Select | NP_001254479.2:p.Asn19945= | |
| NM_003319.4:c.32640C>T (TTN) | NP_003310.4:p.Asn10880= | |
| NM_133378.4:c.52131C>T (TTN) | NP_596869.4:p.Asn17377= | |
| NM_133432.3:c.33015C>T (TTN) | NP_597676.3:p.Asn11005= | |
| NM_133437.4:c.33216C>T (TTN) | NP_597681.4:p.Asn11072= | |
| NR_038271.1:n.597-5527G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+755G>A (TTN-AS1) | ||
| XM_011511729.1:c.58932C>T (TTN) | XP_011510031.1:p.Asn19644= | |
| XM_011511730.1:c.32826C>T (TTN) | XP_011510032.1:p.Asn10942= | |
| XM_011511731.1:c.32685C>T (TTN) | XP_011510033.1:p.Asn10895= | |
| XM_017004819.1:c.58728C>T (TTN) | XP_016860308.1:p.Asn19576= | |
| XM_017004820.1:c.54126C>T (TTN) | XP_016860309.1:p.Asn18042= | |
| XM_017004821.1:c.54123C>T (TTN) | XP_016860310.1:p.Asn18041= | |
| XM_017004822.1:c.51165C>T (TTN) | XP_016860311.1:p.Asn17055= | |
| XM_017004823.1:c.32781C>T (TTN) | XP_016860312.1:p.Asn10927= | |
| XM_024453094.1:c.54276C>T (TTN) | XP_024308862.1:p.Asn18092= | |
| XM_024453095.1:c.54273C>T (TTN) | XP_024308863.1:p.Asn18091= | |
| XM_024453096.1:c.53706C>T (TTN) | XP_024308864.1:p.Asn17902= | |
| XM_024453097.1:c.51048C>T (TTN) | XP_024308865.1:p.Asn17016= | |
| XM_024453098.1:c.50967C>T (TTN) | XP_024308866.1:p.Asn16989= | |
| XM_024453099.1:c.32730C>T (TTN) | XP_024308867.1:p.Asn10910= | |
| XM_024453100.1:c.22584C>T (TTN) | XP_024308868.1:p.Asn7528= |