Linked Data
ClinVar Variation Id:
195918
dbSNP Id:
rs529529087
ExAC:
2:179456110 G / A
gnomAD v2:
2-179456110-G-A
gnomAD v3:
2-178591383-G-A
gnomAD v4:
2-178591383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591383G>A , CM000664.2:g.178591383G>A | GRCh38 |
| NC_000002.11:g.179456110G>A , CM000664.1:g.179456110G>A | GRCh37 |
| NC_000002.10:g.179164356G>A | NCBI36 |
| NG_011618.3:g.244420C>T , LRG_391:g.244420C>T | |
| NG_051363.1:g.73557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52638C>T (TTN) | ENSP00000343764.6:p.Thr17546= | |
| ENST00000342175.11:c.33723C>T (TTN) | ENSP00000340554.6:p.Thr11241= | |
| ENST00000359218.10:c.33522C>T (TTN) | ENSP00000352154.5:p.Thr11174= | |
| ENST00000342175.10:c.33723C>T (TTN) | ENSP00000340554.6:p.Thr11241= | |
| ENST00000342992.10:c.52638C>T (TTN) | ENSP00000343764.6:p.Thr17546= | |
| ENST00000359218.9:c.33522C>T (TTN) | ENSP00000352154.5:p.Thr11174= | |
| ENST00000460472.6:c.33147C>T (TTN) | ENSP00000434586.1:p.Thr11049= | |
| ENST00000589042.5:c.60342C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr20114= | |
| ENST00000591111.5:c.55419C>T (TTN) | ENSP00000465570.1:p.Thr18473= | |
| ENST00000615779.4:c.55419C>T (TTN) | ENSP00000483597.1:p.Thr18473= | |
| NM_001256850.1:c.55419C>T (TTN) | NP_001243779.1:p.Thr18473= | |
| NM_001267550.2:c.60342C>T (TTN) MANE Select | NP_001254479.2:p.Thr20114= | |
| NM_003319.4:c.33147C>T (TTN) | NP_003310.4:p.Thr11049= | |
| NM_133378.4:c.52638C>T (TTN) | NP_596869.4:p.Thr17546= | |
| NM_133432.3:c.33522C>T (TTN) | NP_597676.3:p.Thr11174= | |
| NM_133437.4:c.33723C>T (TTN) | NP_597681.4:p.Thr11241= | |
| NR_038271.1:n.597-6213G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+69G>A (TTN-AS1) | ||
| XM_011511729.1:c.59439C>T (TTN) | XP_011510031.1:p.Thr19813= | |
| XM_011511730.1:c.33333C>T (TTN) | XP_011510032.1:p.Thr11111= | |
| XM_011511731.1:c.33192C>T (TTN) | XP_011510033.1:p.Thr11064= | |
| XM_017004819.1:c.59235C>T (TTN) | XP_016860308.1:p.Thr19745= | |
| XM_017004820.1:c.54633C>T (TTN) | XP_016860309.1:p.Thr18211= | |
| XM_017004821.1:c.54630C>T (TTN) | XP_016860310.1:p.Thr18210= | |
| XM_017004822.1:c.51672C>T (TTN) | XP_016860311.1:p.Thr17224= | |
| XM_017004823.1:c.33288C>T (TTN) | XP_016860312.1:p.Thr11096= | |
| XM_024453094.1:c.54783C>T (TTN) | XP_024308862.1:p.Thr18261= | |
| XM_024453095.1:c.54780C>T (TTN) | XP_024308863.1:p.Thr18260= | |
| XM_024453096.1:c.54213C>T (TTN) | XP_024308864.1:p.Thr18071= | |
| XM_024453097.1:c.51555C>T (TTN) | XP_024308865.1:p.Thr17185= | |
| XM_024453098.1:c.51474C>T (TTN) | XP_024308866.1:p.Thr17158= | |
| XM_024453099.1:c.33237C>T (TTN) | XP_024308867.1:p.Thr11079= | |
| XM_024453100.1:c.23091C>T (TTN) | XP_024308868.1:p.Thr7697= |