Linked Data
ClinVar Variation Id:
448828
dbSNP Id:
rs755325663
ExAC:
2:179421635 C / A
gnomAD v2:
2-179421635-C-A
gnomAD v3:
2-178556908-C-A
gnomAD v4:
2-178556908-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178556908C>A , CM000664.2:g.178556908C>A | GRCh38 |
| NC_000002.11:g.179421635C>A , CM000664.1:g.179421635C>A | GRCh37 |
| NC_000002.10:g.179129881C>A | NCBI36 |
| NG_011618.3:g.278895G>T , LRG_391:g.278895G>T | |
| NG_051363.1:g.39082C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80542G>T (TTN) | ENSP00000343764.6:p.Val26848Phe | |
| ENST00000342175.11:c.61627G>T (TTN) | ENSP00000340554.6:p.Val20543Phe | |
| ENST00000359218.10:c.61426G>T (TTN) | ENSP00000352154.5:p.Val20476Phe | |
| ENST00000342175.10:c.61627G>T (TTN) | ENSP00000340554.6:p.Val20543Phe | |
| ENST00000342992.10:c.80542G>T (TTN) | ENSP00000343764.6:p.Val26848Phe | |
| ENST00000359218.9:c.61426G>T (TTN) | ENSP00000352154.5:p.Val20476Phe | |
| ENST00000460472.6:c.61051G>T (TTN) | ENSP00000434586.1:p.Val20351Phe | |
| ENST00000589042.5:c.88246G>T (TTN) MANE Select | ENSP00000467141.1:p.Val29416Phe | |
| ENST00000591111.5:c.83323G>T (TTN) | ENSP00000465570.1:p.Val27775Phe | |
| ENST00000615779.4:c.83323G>T (TTN) | ENSP00000483597.1:p.Val27775Phe | |
| NM_001256850.1:c.83323G>T (TTN) | NP_001243779.1:p.Val27775Phe | |
| NM_001267550.2:c.88246G>T (TTN) MANE Select | NP_001254479.2:p.Val29416Phe | |
| NM_003319.4:c.61051G>T (TTN) | NP_003310.4:p.Val20351Phe | |
| NM_133378.4:c.80542G>T (TTN) | NP_596869.4:p.Val26848Phe | |
| NM_133432.3:c.61426G>T (TTN) | NP_597676.3:p.Val20476Phe | |
| NM_133437.4:c.61627G>T (TTN) | NP_597681.4:p.Val20543Phe | |
| NR_038271.1:n.447-14392C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+14547C>A (TTN-AS1) | ||
| XM_011511729.1:c.87343G>T (TTN) | XP_011510031.1:p.Val29115Phe | |
| XM_011511730.1:c.61237G>T (TTN) | XP_011510032.1:p.Val20413Phe | |
| XM_011511731.1:c.61096G>T (TTN) | XP_011510033.1:p.Val20366Phe | |
| XM_017004819.1:c.87139G>T (TTN) | XP_016860308.1:p.Val29047Phe | |
| XM_017004820.1:c.82537G>T (TTN) | XP_016860309.1:p.Val27513Phe | |
| XM_017004821.1:c.82534G>T (TTN) | XP_016860310.1:p.Val27512Phe | |
| XM_017004822.1:c.79576G>T (TTN) | XP_016860311.1:p.Val26526Phe | |
| XM_017004823.1:c.61192G>T (TTN) | XP_016860312.1:p.Val20398Phe | |
| XM_024453094.1:c.82687G>T (TTN) | XP_024308862.1:p.Val27563Phe | |
| XM_024453095.1:c.82684G>T (TTN) | XP_024308863.1:p.Val27562Phe | |
| XM_024453096.1:c.82117G>T (TTN) | XP_024308864.1:p.Val27373Phe | |
| XM_024453097.1:c.79459G>T (TTN) | XP_024308865.1:p.Val26487Phe | |
| XM_024453098.1:c.79378G>T (TTN) | XP_024308866.1:p.Val26460Phe | |
| XM_024453099.1:c.61141G>T (TTN) | XP_024308867.1:p.Val20381Phe | |
| XM_024453100.1:c.50995G>T (TTN) | XP_024308868.1:p.Val16999Phe |