Linked Data
ClinVar Variation Id:
282096
dbSNP Id:
rs371818894
ExAC:
2:179439710 C / A
gnomAD v2:
2-179439710-C-A
gnomAD v3:
2-178574983-C-A
gnomAD v4:
2-178574983-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574983C>A , CM000664.2:g.178574983C>A | GRCh38 |
| NC_000002.11:g.179439710C>A , CM000664.1:g.179439710C>A | GRCh37 |
| NC_000002.10:g.179147956C>A | NCBI36 |
| NG_011618.3:g.260820G>T , LRG_391:g.260820G>T | |
| NG_051363.1:g.57157C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63445G>T (TTN) | ENSP00000343764.6:p.Asp21149Tyr | |
| ENST00000342175.11:c.44530G>T (TTN) | ENSP00000340554.6:p.Asp14844Tyr | |
| ENST00000359218.10:c.44329G>T (TTN) | ENSP00000352154.5:p.Asp14777Tyr | |
| ENST00000342175.10:c.44530G>T (TTN) | ENSP00000340554.6:p.Asp14844Tyr | |
| ENST00000342992.10:c.63445G>T (TTN) | ENSP00000343764.6:p.Asp21149Tyr | |
| ENST00000359218.9:c.44329G>T (TTN) | ENSP00000352154.5:p.Asp14777Tyr | |
| ENST00000460472.6:c.43954G>T (TTN) | ENSP00000434586.1:p.Asp14652Tyr | |
| ENST00000589042.5:c.71149G>T (TTN) MANE Select | ENSP00000467141.1:p.Asp23717Tyr | |
| ENST00000591111.5:c.66226G>T (TTN) | ENSP00000465570.1:p.Asp22076Tyr | |
| ENST00000615779.4:c.66226G>T (TTN) | ENSP00000483597.1:p.Asp22076Tyr | |
| NM_001256850.1:c.66226G>T (TTN) | NP_001243779.1:p.Asp22076Tyr | |
| NM_001267550.2:c.71149G>T (TTN) MANE Select | NP_001254479.2:p.Asp23717Tyr | |
| NM_003319.4:c.43954G>T (TTN) | NP_003310.4:p.Asp14652Tyr | |
| NM_133378.4:c.63445G>T (TTN) | NP_596869.4:p.Asp21149Tyr | |
| NM_133432.3:c.44329G>T (TTN) | NP_597676.3:p.Asp14777Tyr | |
| NM_133437.4:c.44530G>T (TTN) | NP_597681.4:p.Asp14844Tyr | |
| NR_038271.1:n.596+3534C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7589C>A (TTN-AS1) | ||
| XM_011511729.1:c.70246G>T (TTN) | XP_011510031.1:p.Asp23416Tyr | |
| XM_011511730.1:c.44140G>T (TTN) | XP_011510032.1:p.Asp14714Tyr | |
| XM_011511731.1:c.43999G>T (TTN) | XP_011510033.1:p.Asp14667Tyr | |
| XM_017004819.1:c.70042G>T (TTN) | XP_016860308.1:p.Asp23348Tyr | |
| XM_017004820.1:c.65440G>T (TTN) | XP_016860309.1:p.Asp21814Tyr | |
| XM_017004821.1:c.65437G>T (TTN) | XP_016860310.1:p.Asp21813Tyr | |
| XM_017004822.1:c.62479G>T (TTN) | XP_016860311.1:p.Asp20827Tyr | |
| XM_017004823.1:c.44095G>T (TTN) | XP_016860312.1:p.Asp14699Tyr | |
| XM_024453094.1:c.65590G>T (TTN) | XP_024308862.1:p.Asp21864Tyr | |
| XM_024453095.1:c.65587G>T (TTN) | XP_024308863.1:p.Asp21863Tyr | |
| XM_024453096.1:c.65020G>T (TTN) | XP_024308864.1:p.Asp21674Tyr | |
| XM_024453097.1:c.62362G>T (TTN) | XP_024308865.1:p.Asp20788Tyr | |
| XM_024453098.1:c.62281G>T (TTN) | XP_024308866.1:p.Asp20761Tyr | |
| XM_024453099.1:c.44044G>T (TTN) | XP_024308867.1:p.Asp14682Tyr | |
| XM_024453100.1:c.33898G>T (TTN) | XP_024308868.1:p.Asp11300Tyr |