Linked Data
ClinVar Variation Id:
466750
ClinVar RCV Id:
RCV000547265
dbSNP Id:
rs770681247
gnomAD v4:
2-178530427-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530427A>T , CM000664.2:g.178530427A>T | GRCh38 |
| NC_000002.11:g.179395154A>T , CM000664.1:g.179395154A>T | GRCh37 |
| NC_000002.10:g.179103400A>T | NCBI36 |
| NG_011618.3:g.305376T>A , LRG_391:g.305376T>A | |
| NG_051363.1:g.12601A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98484T>A (TTN) | ENSP00000343764.6:p.Asp32828Glu | |
| ENST00000342175.11:c.79569T>A (TTN) | ENSP00000340554.6:p.Asp26523Glu | |
| ENST00000359218.10:c.79368T>A (TTN) | ENSP00000352154.5:p.Asp26456Glu | |
| ENST00000342175.10:c.79569T>A (TTN) | ENSP00000340554.6:p.Asp26523Glu | |
| ENST00000342992.10:c.98484T>A (TTN) | ENSP00000343764.6:p.Asp32828Glu | |
| ENST00000359218.9:c.79368T>A (TTN) | ENSP00000352154.5:p.Asp26456Glu | |
| ENST00000460472.6:c.78993T>A (TTN) | ENSP00000434586.1:p.Asp26331Glu | |
| ENST00000589042.5:c.106188T>A (TTN) MANE Select | ENSP00000467141.1:p.Asp35396Glu | |
| ENST00000591111.5:c.101265T>A (TTN) | ENSP00000465570.1:p.Asp33755Glu | |
| ENST00000615779.4:c.101265T>A (TTN) | ENSP00000483597.1:p.Asp33755Glu | |
| NM_001256850.1:c.101265T>A (TTN) | NP_001243779.1:p.Asp33755Glu | |
| NM_001267550.2:c.106188T>A (TTN) MANE Select | NP_001254479.2:p.Asp35396Glu | |
| NM_003319.4:c.78993T>A (TTN) | NP_003310.4:p.Asp26331Glu | |
| NM_133378.4:c.98484T>A (TTN) | NP_596869.4:p.Asp32828Glu | |
| NM_133432.3:c.79368T>A (TTN) | NP_597676.3:p.Asp26456Glu | |
| NM_133437.4:c.79569T>A (TTN) | NP_597681.4:p.Asp26523Glu | |
| NR_038271.1:n.446+6791A>T (TTN-AS1) | ||
| NR_038272.1:n.220-5305A>T (TTN-AS1) | ||
| XM_011511729.1:c.105285T>A (TTN) | XP_011510031.1:p.Asp35095Glu | |
| XM_011511730.1:c.79179T>A (TTN) | XP_011510032.1:p.Asp26393Glu | |
| XM_011511731.1:c.79038T>A (TTN) | XP_011510033.1:p.Asp26346Glu | |
| XM_017004819.1:c.105081T>A (TTN) | XP_016860308.1:p.Asp35027Glu | |
| XM_017004820.1:c.100479T>A (TTN) | XP_016860309.1:p.Asp33493Glu | |
| XM_017004821.1:c.100476T>A (TTN) | XP_016860310.1:p.Asp33492Glu | |
| XM_017004822.1:c.97518T>A (TTN) | XP_016860311.1:p.Asp32506Glu | |
| XM_017004823.1:c.79134T>A (TTN) | XP_016860312.1:p.Asp26378Glu | |
| XM_024453094.1:c.100629T>A (TTN) | XP_024308862.1:p.Asp33543Glu | |
| XM_024453095.1:c.100626T>A (TTN) | XP_024308863.1:p.Asp33542Glu | |
| XM_024453096.1:c.100059T>A (TTN) | XP_024308864.1:p.Asp33353Glu | |
| XM_024453097.1:c.97401T>A (TTN) | XP_024308865.1:p.Asp32467Glu | |
| XM_024453098.1:c.97320T>A (TTN) | XP_024308866.1:p.Asp32440Glu | |
| XM_024453099.1:c.79083T>A (TTN) | XP_024308867.1:p.Asp26361Glu | |
| XM_024453100.1:c.68937T>A (TTN) | XP_024308868.1:p.Asp22979Glu |