Linked Data
ClinVar Variation Id:
47512
ClinVar RCV Id:
RCV000040781
RCV000294400
RCV000307351
RCV000359863
RCV000347053
RCV000403395
RCV001081378
RCV000723853
RCV002362643
RCV003149661
RCV004541191
dbSNP Id:
rs182549226
ExAC:
2:179414964 T / A
gnomAD v2:
2-179414964-T-A
gnomAD v3:
2-178550237-T-A
gnomAD v4:
2-178550237-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550237T>A , CM000664.2:g.178550237T>A | GRCh38 |
| NC_000002.11:g.179414964T>A , CM000664.1:g.179414964T>A | GRCh37 |
| NC_000002.10:g.179123210T>A | NCBI36 |
| NG_011618.3:g.285566A>T , LRG_391:g.285566A>T | |
| NG_051363.1:g.32411T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83897A>T (TTN) | ENSP00000343764.6:p.Asp27966Val | |
| ENST00000342175.11:c.64982A>T (TTN) | ENSP00000340554.6:p.Asp21661Val | |
| ENST00000359218.10:c.64781A>T (TTN) | ENSP00000352154.5:p.Asp21594Val | |
| ENST00000342175.10:c.64982A>T (TTN) | ENSP00000340554.6:p.Asp21661Val | |
| ENST00000342992.10:c.83897A>T (TTN) | ENSP00000343764.6:p.Asp27966Val | |
| ENST00000359218.9:c.64781A>T (TTN) | ENSP00000352154.5:p.Asp21594Val | |
| ENST00000460472.6:c.64406A>T (TTN) | ENSP00000434586.1:p.Asp21469Val | |
| ENST00000589042.5:c.91601A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp30534Val | |
| ENST00000591111.5:c.86678A>T (TTN) | ENSP00000465570.1:p.Asp28893Val | |
| ENST00000615779.4:c.86678A>T (TTN) | ENSP00000483597.1:p.Asp28893Val | |
| NM_001256850.1:c.86678A>T (TTN) | NP_001243779.1:p.Asp28893Val | |
| NM_001267550.2:c.91601A>T (TTN) MANE Select | NP_001254479.2:p.Asp30534Val | |
| NM_003319.4:c.64406A>T (TTN) | NP_003310.4:p.Asp21469Val | |
| NM_133378.4:c.83897A>T (TTN) | NP_596869.4:p.Asp27966Val | |
| NM_133432.3:c.64781A>T (TTN) | NP_597676.3:p.Asp21594Val | |
| NM_133437.4:c.64982A>T (TTN) | NP_597681.4:p.Asp21661Val | |
| NR_038271.1:n.447-21063T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7876T>A (TTN-AS1) | ||
| XM_011511729.1:c.90698A>T (TTN) | XP_011510031.1:p.Asp30233Val | |
| XM_011511730.1:c.64592A>T (TTN) | XP_011510032.1:p.Asp21531Val | |
| XM_011511731.1:c.64451A>T (TTN) | XP_011510033.1:p.Asp21484Val | |
| XM_017004819.1:c.90494A>T (TTN) | XP_016860308.1:p.Asp30165Val | |
| XM_017004820.1:c.85892A>T (TTN) | XP_016860309.1:p.Asp28631Val | |
| XM_017004821.1:c.85889A>T (TTN) | XP_016860310.1:p.Asp28630Val | |
| XM_017004822.1:c.82931A>T (TTN) | XP_016860311.1:p.Asp27644Val | |
| XM_017004823.1:c.64547A>T (TTN) | XP_016860312.1:p.Asp21516Val | |
| XM_024453094.1:c.86042A>T (TTN) | XP_024308862.1:p.Asp28681Val | |
| XM_024453095.1:c.86039A>T (TTN) | XP_024308863.1:p.Asp28680Val | |
| XM_024453096.1:c.85472A>T (TTN) | XP_024308864.1:p.Asp28491Val | |
| XM_024453097.1:c.82814A>T (TTN) | XP_024308865.1:p.Asp27605Val | |
| XM_024453098.1:c.82733A>T (TTN) | XP_024308866.1:p.Asp27578Val | |
| XM_024453099.1:c.64496A>T (TTN) | XP_024308867.1:p.Asp21499Val | |
| XM_024453100.1:c.54350A>T (TTN) | XP_024308868.1:p.Asp18117Val |