Linked Data
ClinVar Variation Id:
467181
dbSNP Id:
rs761815745
ExAC:
2:179484453 C / T
gnomAD v2:
2-179484453-C-T
gnomAD v3:
2-178619726-C-T
gnomAD v4:
2-178619726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178619726C>T , CM000664.2:g.178619726C>T | GRCh38 |
| NC_000002.11:g.179484453C>T , CM000664.1:g.179484453C>T | GRCh37 |
| NC_000002.10:g.179192698C>T | NCBI36 |
| NG_011618.3:g.216077G>A , LRG_391:g.216077G>A | |
| NG_051363.1:g.101900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38887G>A (TTN) | ENSP00000343764.6:p.Gly12963Arg | |
| ENST00000342175.11:c.19972G>A (TTN) | ENSP00000340554.6:p.Gly6658Arg | |
| ENST00000359218.10:c.19771G>A (TTN) | ENSP00000352154.5:p.Gly6591Arg | |
| ENST00000342175.10:c.19972G>A (TTN) | ENSP00000340554.6:p.Gly6658Arg | |
| ENST00000342992.10:c.38887G>A (TTN) | ENSP00000343764.6:p.Gly12963Arg | |
| ENST00000359218.9:c.19771G>A (TTN) | ENSP00000352154.5:p.Gly6591Arg | |
| ENST00000460472.6:c.19396G>A (TTN) | ENSP00000434586.1:p.Gly6466Arg | |
| ENST00000589042.5:c.46591G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly15531Arg | |
| ENST00000591111.5:c.41668G>A (TTN) | ENSP00000465570.1:p.Gly13890Arg | |
| ENST00000615779.4:c.41668G>A (TTN) | ENSP00000483597.1:p.Gly13890Arg | |
| NM_001256850.1:c.41668G>A (TTN) | NP_001243779.1:p.Gly13890Arg | |
| NM_001267550.2:c.46591G>A (TTN) MANE Select | NP_001254479.2:p.Gly15531Arg | |
| NM_003319.4:c.19396G>A (TTN) | NP_003310.4:p.Gly6466Arg | |
| NM_133378.4:c.38887G>A (TTN) | NP_596869.4:p.Gly12963Arg | |
| NM_133432.3:c.19771G>A (TTN) | NP_597676.3:p.Gly6591Arg | |
| NM_133437.4:c.19972G>A (TTN) | NP_597681.4:p.Gly6658Arg | |
| NR_038271.1:n.1605-27C>T (TTN-AS1) | ||
| XM_011511729.1:c.45688G>A (TTN) | XP_011510031.1:p.Gly15230Arg | |
| XM_011511730.1:c.19582G>A (TTN) | XP_011510032.1:p.Gly6528Arg | |
| XM_011511731.1:c.19441G>A (TTN) | XP_011510033.1:p.Gly6481Arg | |
| XM_017004819.1:c.45484G>A (TTN) | XP_016860308.1:p.Gly15162Arg | |
| XM_017004820.1:c.40882G>A (TTN) | XP_016860309.1:p.Gly13628Arg | |
| XM_017004821.1:c.40879G>A (TTN) | XP_016860310.1:p.Gly13627Arg | |
| XM_017004822.1:c.37921G>A (TTN) | XP_016860311.1:p.Gly12641Arg | |
| XM_017004823.1:c.19537G>A (TTN) | XP_016860312.1:p.Gly6513Arg | |
| XM_024453094.1:c.41032G>A (TTN) | XP_024308862.1:p.Gly13678Arg | |
| XM_024453095.1:c.41029G>A (TTN) | XP_024308863.1:p.Gly13677Arg | |
| XM_024453096.1:c.40462G>A (TTN) | XP_024308864.1:p.Gly13488Arg | |
| XM_024453097.1:c.37804G>A (TTN) | XP_024308865.1:p.Gly12602Arg | |
| XM_024453098.1:c.37723G>A (TTN) | XP_024308866.1:p.Gly12575Arg | |
| XM_024453099.1:c.19486G>A (TTN) | XP_024308867.1:p.Gly6496Arg | |
| XM_024453100.1:c.9340G>A (TTN) | XP_024308868.1:p.Gly3114Arg |