Linked Data
ClinVar Variation Id:
203081
dbSNP Id:
rs766157074
gnomAD v2:
2-179396868-G-T
gnomAD v3:
2-178532141-G-T
gnomAD v4:
2-178532141-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532141G>T , CM000664.2:g.178532141G>T | GRCh38 |
| NC_000002.11:g.179396868G>T , CM000664.1:g.179396868G>T | GRCh37 |
| NC_000002.10:g.179105114G>T | NCBI36 |
| NG_011618.3:g.303662C>A , LRG_391:g.303662C>A | |
| NG_051363.1:g.14315G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96770C>A (TTN) | ENSP00000343764.6:p.Ala32257Asp | |
| ENST00000342175.11:c.77855C>A (TTN) | ENSP00000340554.6:p.Ala25952Asp | |
| ENST00000359218.10:c.77654C>A (TTN) | ENSP00000352154.5:p.Ala25885Asp | |
| ENST00000342175.10:c.77855C>A (TTN) | ENSP00000340554.6:p.Ala25952Asp | |
| ENST00000342992.10:c.96770C>A (TTN) | ENSP00000343764.6:p.Ala32257Asp | |
| ENST00000359218.9:c.77654C>A (TTN) | ENSP00000352154.5:p.Ala25885Asp | |
| ENST00000460472.6:c.77279C>A (TTN) | ENSP00000434586.1:p.Ala25760Asp | |
| ENST00000589042.5:c.104474C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala34825Asp | |
| ENST00000591111.5:c.99551C>A (TTN) | ENSP00000465570.1:p.Ala33184Asp | |
| ENST00000615779.4:c.99551C>A (TTN) | ENSP00000483597.1:p.Ala33184Asp | |
| NM_001256850.1:c.99551C>A (TTN) | NP_001243779.1:p.Ala33184Asp | |
| NM_001267550.2:c.104474C>A (TTN) MANE Select | NP_001254479.2:p.Ala34825Asp | |
| NM_003319.4:c.77279C>A (TTN) | NP_003310.4:p.Ala25760Asp | |
| NM_133378.4:c.96770C>A (TTN) | NP_596869.4:p.Ala32257Asp | |
| NM_133432.3:c.77654C>A (TTN) | NP_597676.3:p.Ala25885Asp | |
| NM_133437.4:c.77855C>A (TTN) | NP_597681.4:p.Ala25952Asp | |
| NR_038271.1:n.446+8505G>T (TTN-AS1) | ||
| NR_038272.1:n.220-3591G>T (TTN-AS1) | ||
| XM_011511729.1:c.103571C>A (TTN) | XP_011510031.1:p.Ala34524Asp | |
| XM_011511730.1:c.77465C>A (TTN) | XP_011510032.1:p.Ala25822Asp | |
| XM_011511731.1:c.77324C>A (TTN) | XP_011510033.1:p.Ala25775Asp | |
| XM_017004819.1:c.103367C>A (TTN) | XP_016860308.1:p.Ala34456Asp | |
| XM_017004820.1:c.98765C>A (TTN) | XP_016860309.1:p.Ala32922Asp | |
| XM_017004821.1:c.98762C>A (TTN) | XP_016860310.1:p.Ala32921Asp | |
| XM_017004822.1:c.95804C>A (TTN) | XP_016860311.1:p.Ala31935Asp | |
| XM_017004823.1:c.77420C>A (TTN) | XP_016860312.1:p.Ala25807Asp | |
| XM_024453094.1:c.98915C>A (TTN) | XP_024308862.1:p.Ala32972Asp | |
| XM_024453095.1:c.98912C>A (TTN) | XP_024308863.1:p.Ala32971Asp | |
| XM_024453096.1:c.98345C>A (TTN) | XP_024308864.1:p.Ala32782Asp | |
| XM_024453097.1:c.95687C>A (TTN) | XP_024308865.1:p.Ala31896Asp | |
| XM_024453098.1:c.95606C>A (TTN) | XP_024308866.1:p.Ala31869Asp | |
| XM_024453099.1:c.77369C>A (TTN) | XP_024308867.1:p.Ala25790Asp | |
| XM_024453100.1:c.67223C>A (TTN) | XP_024308868.1:p.Ala22408Asp |