Linked Data
ClinVar Variation Id:
405089
dbSNP Id:
rs770101398
ExAC:
2:179408015 C / T
gnomAD v2:
2-179408015-C-T
gnomAD v4:
2-178543288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543288C>T , CM000664.2:g.178543288C>T | GRCh38 |
| NC_000002.11:g.179408015C>T , CM000664.1:g.179408015C>T | GRCh37 |
| NC_000002.10:g.179116261C>T | NCBI36 |
| NG_011618.3:g.292515G>A , LRG_391:g.292515G>A | |
| NG_051363.1:g.25462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88981G>A (TTN) | ENSP00000343764.6:p.Asp29661Asn | |
| ENST00000342175.11:c.70066G>A (TTN) | ENSP00000340554.6:p.Asp23356Asn | |
| ENST00000359218.10:c.69865G>A (TTN) | ENSP00000352154.5:p.Asp23289Asn | |
| ENST00000342175.10:c.70066G>A (TTN) | ENSP00000340554.6:p.Asp23356Asn | |
| ENST00000342992.10:c.88981G>A (TTN) | ENSP00000343764.6:p.Asp29661Asn | |
| ENST00000359218.9:c.69865G>A (TTN) | ENSP00000352154.5:p.Asp23289Asn | |
| ENST00000460472.6:c.69490G>A (TTN) | ENSP00000434586.1:p.Asp23164Asn | |
| ENST00000589042.5:c.96685G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp32229Asn | |
| ENST00000591111.5:c.91762G>A (TTN) | ENSP00000465570.1:p.Asp30588Asn | |
| ENST00000615779.4:c.91762G>A (TTN) | ENSP00000483597.1:p.Asp30588Asn | |
| NM_001256850.1:c.91762G>A (TTN) | NP_001243779.1:p.Asp30588Asn | |
| NM_001267550.2:c.96685G>A (TTN) MANE Select | NP_001254479.2:p.Asp32229Asn | |
| NM_003319.4:c.69490G>A (TTN) | NP_003310.4:p.Asp23164Asn | |
| NM_133378.4:c.88981G>A (TTN) | NP_596869.4:p.Asp29661Asn | |
| NM_133432.3:c.69865G>A (TTN) | NP_597676.3:p.Asp23289Asn | |
| NM_133437.4:c.70066G>A (TTN) | NP_597681.4:p.Asp23356Asn | |
| NR_038271.1:n.446+19652C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+927C>T (TTN-AS1) | ||
| XM_011511729.1:c.95782G>A (TTN) | XP_011510031.1:p.Asp31928Asn | |
| XM_011511730.1:c.69676G>A (TTN) | XP_011510032.1:p.Asp23226Asn | |
| XM_011511731.1:c.69535G>A (TTN) | XP_011510033.1:p.Asp23179Asn | |
| XM_017004819.1:c.95578G>A (TTN) | XP_016860308.1:p.Asp31860Asn | |
| XM_017004820.1:c.90976G>A (TTN) | XP_016860309.1:p.Asp30326Asn | |
| XM_017004821.1:c.90973G>A (TTN) | XP_016860310.1:p.Asp30325Asn | |
| XM_017004822.1:c.88015G>A (TTN) | XP_016860311.1:p.Asp29339Asn | |
| XM_017004823.1:c.69631G>A (TTN) | XP_016860312.1:p.Asp23211Asn | |
| XM_024453094.1:c.91126G>A (TTN) | XP_024308862.1:p.Asp30376Asn | |
| XM_024453095.1:c.91123G>A (TTN) | XP_024308863.1:p.Asp30375Asn | |
| XM_024453096.1:c.90556G>A (TTN) | XP_024308864.1:p.Asp30186Asn | |
| XM_024453097.1:c.87898G>A (TTN) | XP_024308865.1:p.Asp29300Asn | |
| XM_024453098.1:c.87817G>A (TTN) | XP_024308866.1:p.Asp29273Asn | |
| XM_024453099.1:c.69580G>A (TTN) | XP_024308867.1:p.Asp23194Asn | |
| XM_024453100.1:c.59434G>A (TTN) | XP_024308868.1:p.Asp19812Asn |