Linked Data
ClinVar Variation Id:
47238
dbSNP Id:
rs72646870
ExAC:
2:179446322 C / T
gnomAD v2:
2-179446322-C-T
gnomAD v3:
2-178581595-C-T
gnomAD v4:
2-178581595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581595C>T , CM000664.2:g.178581595C>T | GRCh38 |
| NC_000002.11:g.179446322C>T , CM000664.1:g.179446322C>T | GRCh37 |
| NC_000002.10:g.179154568C>T | NCBI36 |
| NG_011618.3:g.254208G>A , LRG_391:g.254208G>A | |
| NG_051363.1:g.63769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58969G>A (TTN) | ENSP00000343764.6:p.Asp19657Asn | |
| ENST00000342175.11:c.40054G>A (TTN) | ENSP00000340554.6:p.Asp13352Asn | |
| ENST00000359218.10:c.39853G>A (TTN) | ENSP00000352154.5:p.Asp13285Asn | |
| ENST00000342175.10:c.40054G>A (TTN) | ENSP00000340554.6:p.Asp13352Asn | |
| ENST00000342992.10:c.58969G>A (TTN) | ENSP00000343764.6:p.Asp19657Asn | |
| ENST00000359218.9:c.39853G>A (TTN) | ENSP00000352154.5:p.Asp13285Asn | |
| ENST00000460472.6:c.39478G>A (TTN) | ENSP00000434586.1:p.Asp13160Asn | |
| ENST00000589042.5:c.66673G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp22225Asn | |
| ENST00000591111.5:c.61750G>A (TTN) | ENSP00000465570.1:p.Asp20584Asn | |
| ENST00000615779.4:c.61750G>A (TTN) | ENSP00000483597.1:p.Asp20584Asn | |
| NM_001256850.1:c.61750G>A (TTN) | NP_001243779.1:p.Asp20584Asn | |
| NM_001267550.2:c.66673G>A (TTN) MANE Select | NP_001254479.2:p.Asp22225Asn | |
| NM_003319.4:c.39478G>A (TTN) | NP_003310.4:p.Asp13160Asn | |
| NM_133378.4:c.58969G>A (TTN) | NP_596869.4:p.Asp19657Asn | |
| NM_133432.3:c.39853G>A (TTN) | NP_597676.3:p.Asp13285Asn | |
| NM_133437.4:c.40054G>A (TTN) | NP_597681.4:p.Asp13352Asn | |
| NR_038271.1:n.596+10146C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-977C>T (TTN-AS1) | ||
| XM_011511729.1:c.65770G>A (TTN) | XP_011510031.1:p.Asp21924Asn | |
| XM_011511730.1:c.39664G>A (TTN) | XP_011510032.1:p.Asp13222Asn | |
| XM_011511731.1:c.39523G>A (TTN) | XP_011510033.1:p.Asp13175Asn | |
| XM_017004819.1:c.65566G>A (TTN) | XP_016860308.1:p.Asp21856Asn | |
| XM_017004820.1:c.60964G>A (TTN) | XP_016860309.1:p.Asp20322Asn | |
| XM_017004821.1:c.60961G>A (TTN) | XP_016860310.1:p.Asp20321Asn | |
| XM_017004822.1:c.58003G>A (TTN) | XP_016860311.1:p.Asp19335Asn | |
| XM_017004823.1:c.39619G>A (TTN) | XP_016860312.1:p.Asp13207Asn | |
| XM_024453094.1:c.61114G>A (TTN) | XP_024308862.1:p.Asp20372Asn | |
| XM_024453095.1:c.61111G>A (TTN) | XP_024308863.1:p.Asp20371Asn | |
| XM_024453096.1:c.60544G>A (TTN) | XP_024308864.1:p.Asp20182Asn | |
| XM_024453097.1:c.57886G>A (TTN) | XP_024308865.1:p.Asp19296Asn | |
| XM_024453098.1:c.57805G>A (TTN) | XP_024308866.1:p.Asp19269Asn | |
| XM_024453099.1:c.39568G>A (TTN) | XP_024308867.1:p.Asp13190Asn | |
| XM_024453100.1:c.29422G>A (TTN) | XP_024308868.1:p.Asp9808Asn |