Linked Data
ClinVar Variation Id:
229561
dbSNP Id:
rs200675195
ExAC:
2:179399964 T / A
gnomAD v2:
2-179399964-T-A
gnomAD v3:
2-178535237-T-A
gnomAD v4:
2-178535237-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535237T>A , CM000664.2:g.178535237T>A | GRCh38 |
| NC_000002.11:g.179399964T>A , CM000664.1:g.179399964T>A | GRCh37 |
| NC_000002.10:g.179108210T>A | NCBI36 |
| NG_011618.3:g.300566A>T , LRG_391:g.300566A>T | |
| NG_051363.1:g.17411T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93674A>T (TTN) | ENSP00000343764.6:p.Asp31225Val | |
| ENST00000342175.11:c.74759A>T (TTN) | ENSP00000340554.6:p.Asp24920Val | |
| ENST00000359218.10:c.74558A>T (TTN) | ENSP00000352154.5:p.Asp24853Val | |
| ENST00000342175.10:c.74759A>T (TTN) | ENSP00000340554.6:p.Asp24920Val | |
| ENST00000342992.10:c.93674A>T (TTN) | ENSP00000343764.6:p.Asp31225Val | |
| ENST00000359218.9:c.74558A>T (TTN) | ENSP00000352154.5:p.Asp24853Val | |
| ENST00000460472.6:c.74183A>T (TTN) | ENSP00000434586.1:p.Asp24728Val | |
| ENST00000589042.5:c.101378A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp33793Val | |
| ENST00000591111.5:c.96455A>T (TTN) | ENSP00000465570.1:p.Asp32152Val | |
| ENST00000615779.4:c.96455A>T (TTN) | ENSP00000483597.1:p.Asp32152Val | |
| NM_001256850.1:c.96455A>T (TTN) | NP_001243779.1:p.Asp32152Val | |
| NM_001267550.2:c.101378A>T (TTN) MANE Select | NP_001254479.2:p.Asp33793Val | |
| NM_003319.4:c.74183A>T (TTN) | NP_003310.4:p.Asp24728Val | |
| NM_133378.4:c.93674A>T (TTN) | NP_596869.4:p.Asp31225Val | |
| NM_133432.3:c.74558A>T (TTN) | NP_597676.3:p.Asp24853Val | |
| NM_133437.4:c.74759A>T (TTN) | NP_597681.4:p.Asp24920Val | |
| NR_038271.1:n.446+11601T>A (TTN-AS1) | ||
| NR_038272.1:n.220-495T>A (TTN-AS1) | ||
| XM_011511729.1:c.100475A>T (TTN) | XP_011510031.1:p.Asp33492Val | |
| XM_011511730.1:c.74369A>T (TTN) | XP_011510032.1:p.Asp24790Val | |
| XM_011511731.1:c.74228A>T (TTN) | XP_011510033.1:p.Asp24743Val | |
| XM_017004819.1:c.100271A>T (TTN) | XP_016860308.1:p.Asp33424Val | |
| XM_017004820.1:c.95669A>T (TTN) | XP_016860309.1:p.Asp31890Val | |
| XM_017004821.1:c.95666A>T (TTN) | XP_016860310.1:p.Asp31889Val | |
| XM_017004822.1:c.92708A>T (TTN) | XP_016860311.1:p.Asp30903Val | |
| XM_017004823.1:c.74324A>T (TTN) | XP_016860312.1:p.Asp24775Val | |
| XM_024453094.1:c.95819A>T (TTN) | XP_024308862.1:p.Asp31940Val | |
| XM_024453095.1:c.95816A>T (TTN) | XP_024308863.1:p.Asp31939Val | |
| XM_024453096.1:c.95249A>T (TTN) | XP_024308864.1:p.Asp31750Val | |
| XM_024453097.1:c.92591A>T (TTN) | XP_024308865.1:p.Asp30864Val | |
| XM_024453098.1:c.92510A>T (TTN) | XP_024308866.1:p.Asp30837Val | |
| XM_024453099.1:c.74273A>T (TTN) | XP_024308867.1:p.Asp24758Val | |
| XM_024453100.1:c.64127A>T (TTN) | XP_024308868.1:p.Asp21376Val |