Linked Data
ClinVar Variation Id:
223329
dbSNP Id:
rs869312085
gnomAD v2:
2-179404286-G-A
gnomAD v4:
2-178539559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539559G>A , CM000664.2:g.178539559G>A | GRCh38 |
| NC_000002.11:g.179404286G>A , CM000664.1:g.179404286G>A | GRCh37 |
| NC_000002.10:g.179112532G>A | NCBI36 |
| NG_011618.3:g.296244C>T , LRG_391:g.296244C>T | |
| NG_051363.1:g.21733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90802C>T (TTN) | ENSP00000343764.6:p.Arg30268Ter | |
| ENST00000342175.11:c.71887C>T (TTN) | ENSP00000340554.6:p.Arg23963Ter | |
| ENST00000359218.10:c.71686C>T (TTN) | ENSP00000352154.5:p.Arg23896Ter | |
| ENST00000342175.10:c.71887C>T (TTN) | ENSP00000340554.6:p.Arg23963Ter | |
| ENST00000342992.10:c.90802C>T (TTN) | ENSP00000343764.6:p.Arg30268Ter | |
| ENST00000359218.9:c.71686C>T (TTN) | ENSP00000352154.5:p.Arg23896Ter | |
| ENST00000460472.6:c.71311C>T (TTN) | ENSP00000434586.1:p.Arg23771Ter | |
| ENST00000589042.5:c.98506C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32836Ter | |
| ENST00000591111.5:c.93583C>T (TTN) | ENSP00000465570.1:p.Arg31195Ter | |
| ENST00000615779.4:c.93583C>T (TTN) | ENSP00000483597.1:p.Arg31195Ter | |
| NM_001256850.1:c.93583C>T (TTN) | NP_001243779.1:p.Arg31195Ter | |
| NM_001267550.2:c.98506C>T (TTN) MANE Select | NP_001254479.2:p.Arg32836Ter | |
| NM_003319.4:c.71311C>T (TTN) | NP_003310.4:p.Arg23771Ter | |
| NM_133378.4:c.90802C>T (TTN) | NP_596869.4:p.Arg30268Ter | |
| NM_133432.3:c.71686C>T (TTN) | NP_597676.3:p.Arg23896Ter | |
| NM_133437.4:c.71887C>T (TTN) | NP_597681.4:p.Arg23963Ter | |
| NR_038271.1:n.446+15923G>A (TTN-AS1) | ||
| NR_038272.1:n.1509G>A (TTN-AS1) | ||
| XM_011511729.1:c.97603C>T (TTN) | XP_011510031.1:p.Arg32535Ter | |
| XM_011511730.1:c.71497C>T (TTN) | XP_011510032.1:p.Arg23833Ter | |
| XM_011511731.1:c.71356C>T (TTN) | XP_011510033.1:p.Arg23786Ter | |
| XM_017004819.1:c.97399C>T (TTN) | XP_016860308.1:p.Arg32467Ter | |
| XM_017004820.1:c.92797C>T (TTN) | XP_016860309.1:p.Arg30933Ter | |
| XM_017004821.1:c.92794C>T (TTN) | XP_016860310.1:p.Arg30932Ter | |
| XM_017004822.1:c.89836C>T (TTN) | XP_016860311.1:p.Arg29946Ter | |
| XM_017004823.1:c.71452C>T (TTN) | XP_016860312.1:p.Arg23818Ter | |
| XM_024453094.1:c.92947C>T (TTN) | XP_024308862.1:p.Arg30983Ter | |
| XM_024453095.1:c.92944C>T (TTN) | XP_024308863.1:p.Arg30982Ter | |
| XM_024453096.1:c.92377C>T (TTN) | XP_024308864.1:p.Arg30793Ter | |
| XM_024453097.1:c.89719C>T (TTN) | XP_024308865.1:p.Arg29907Ter | |
| XM_024453098.1:c.89638C>T (TTN) | XP_024308866.1:p.Arg29880Ter | |
| XM_024453099.1:c.71401C>T (TTN) | XP_024308867.1:p.Arg23801Ter | |
| XM_024453100.1:c.61255C>T (TTN) | XP_024308868.1:p.Arg20419Ter |