Linked Data
ClinVar Variation Id:
464497
dbSNP Id:
rs752697861
ExAC:
2:179398819 G / A
gnomAD v2:
2-179398819-G-A
gnomAD v4:
2-178534092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534092G>A , CM000664.2:g.178534092G>A | GRCh38 |
| NC_000002.11:g.179398819G>A , CM000664.1:g.179398819G>A | GRCh37 |
| NC_000002.10:g.179107065G>A | NCBI36 |
| NG_011618.3:g.301711C>T , LRG_391:g.301711C>T | |
| NG_051363.1:g.16266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94819C>T (TTN) | ENSP00000343764.6:p.Arg31607Ter | |
| ENST00000342175.11:c.75904C>T (TTN) | ENSP00000340554.6:p.Arg25302Ter | |
| ENST00000359218.10:c.75703C>T (TTN) | ENSP00000352154.5:p.Arg25235Ter | |
| ENST00000342175.10:c.75904C>T (TTN) | ENSP00000340554.6:p.Arg25302Ter | |
| ENST00000342992.10:c.94819C>T (TTN) | ENSP00000343764.6:p.Arg31607Ter | |
| ENST00000359218.9:c.75703C>T (TTN) | ENSP00000352154.5:p.Arg25235Ter | |
| ENST00000460472.6:c.75328C>T (TTN) | ENSP00000434586.1:p.Arg25110Ter | |
| ENST00000589042.5:c.102523C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34175Ter | |
| ENST00000591111.5:c.97600C>T (TTN) | ENSP00000465570.1:p.Arg32534Ter | |
| ENST00000615779.4:c.97600C>T (TTN) | ENSP00000483597.1:p.Arg32534Ter | |
| NM_001256850.1:c.97600C>T (TTN) | NP_001243779.1:p.Arg32534Ter | |
| NM_001267550.2:c.102523C>T (TTN) MANE Select | NP_001254479.2:p.Arg34175Ter | |
| NM_003319.4:c.75328C>T (TTN) | NP_003310.4:p.Arg25110Ter | |
| NM_133378.4:c.94819C>T (TTN) | NP_596869.4:p.Arg31607Ter | |
| NM_133432.3:c.75703C>T (TTN) | NP_597676.3:p.Arg25235Ter | |
| NM_133437.4:c.75904C>T (TTN) | NP_597681.4:p.Arg25302Ter | |
| NR_038271.1:n.446+10456G>A (TTN-AS1) | ||
| NR_038272.1:n.220-1640G>A (TTN-AS1) | ||
| XM_011511729.1:c.101620C>T (TTN) | XP_011510031.1:p.Arg33874Ter | |
| XM_011511730.1:c.75514C>T (TTN) | XP_011510032.1:p.Arg25172Ter | |
| XM_011511731.1:c.75373C>T (TTN) | XP_011510033.1:p.Arg25125Ter | |
| XM_017004819.1:c.101416C>T (TTN) | XP_016860308.1:p.Arg33806Ter | |
| XM_017004820.1:c.96814C>T (TTN) | XP_016860309.1:p.Arg32272Ter | |
| XM_017004821.1:c.96811C>T (TTN) | XP_016860310.1:p.Arg32271Ter | |
| XM_017004822.1:c.93853C>T (TTN) | XP_016860311.1:p.Arg31285Ter | |
| XM_017004823.1:c.75469C>T (TTN) | XP_016860312.1:p.Arg25157Ter | |
| XM_024453094.1:c.96964C>T (TTN) | XP_024308862.1:p.Arg32322Ter | |
| XM_024453095.1:c.96961C>T (TTN) | XP_024308863.1:p.Arg32321Ter | |
| XM_024453096.1:c.96394C>T (TTN) | XP_024308864.1:p.Arg32132Ter | |
| XM_024453097.1:c.93736C>T (TTN) | XP_024308865.1:p.Arg31246Ter | |
| XM_024453098.1:c.93655C>T (TTN) | XP_024308866.1:p.Arg31219Ter | |
| XM_024453099.1:c.75418C>T (TTN) | XP_024308867.1:p.Arg25140Ter | |
| XM_024453100.1:c.65272C>T (TTN) | XP_024308868.1:p.Arg21758Ter |