Linked Data
ClinVar Variation Id:
282019
ClinVar RCV Id:
RCV000297529
RCV000301478
RCV000261531
RCV000265016
RCV000304573
RCV000356308
RCV000526427
RCV001798768
RCV002347988
dbSNP Id:
rs749194310
ExAC:
2:179429977 G / A
gnomAD v2:
2-179429977-G-A
gnomAD v3:
2-178565250-G-A
gnomAD v4:
2-178565250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565250G>A , CM000664.2:g.178565250G>A | GRCh38 |
| NC_000002.11:g.179429977G>A , CM000664.1:g.179429977G>A | GRCh37 |
| NC_000002.10:g.179138223G>A | NCBI36 |
| NG_011618.3:g.270553C>T , LRG_391:g.270553C>T | |
| NG_051363.1:g.47424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73178C>T (TTN) | ENSP00000343764.6:p.Ala24393Val | |
| ENST00000342175.11:c.54263C>T (TTN) | ENSP00000340554.6:p.Ala18088Val | |
| ENST00000359218.10:c.54062C>T (TTN) | ENSP00000352154.5:p.Ala18021Val | |
| ENST00000342175.10:c.54263C>T (TTN) | ENSP00000340554.6:p.Ala18088Val | |
| ENST00000342992.10:c.73178C>T (TTN) | ENSP00000343764.6:p.Ala24393Val | |
| ENST00000359218.9:c.54062C>T (TTN) | ENSP00000352154.5:p.Ala18021Val | |
| ENST00000460472.6:c.53687C>T (TTN) | ENSP00000434586.1:p.Ala17896Val | |
| ENST00000589042.5:c.80882C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala26961Val | |
| ENST00000591111.5:c.75959C>T (TTN) | ENSP00000465570.1:p.Ala25320Val | |
| ENST00000615779.4:c.75959C>T (TTN) | ENSP00000483597.1:p.Ala25320Val | |
| NM_001256850.1:c.75959C>T (TTN) | NP_001243779.1:p.Ala25320Val | |
| NM_001267550.2:c.80882C>T (TTN) MANE Select | NP_001254479.2:p.Ala26961Val | |
| NM_003319.4:c.53687C>T (TTN) | NP_003310.4:p.Ala17896Val | |
| NM_133378.4:c.73178C>T (TTN) | NP_596869.4:p.Ala24393Val | |
| NM_133432.3:c.54062C>T (TTN) | NP_597676.3:p.Ala18021Val | |
| NM_133437.4:c.54263C>T (TTN) | NP_597681.4:p.Ala18088Val | |
| NR_038271.1:n.447-6050G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17322G>A (TTN-AS1) | ||
| XM_011511729.1:c.79979C>T (TTN) | XP_011510031.1:p.Ala26660Val | |
| XM_011511730.1:c.53873C>T (TTN) | XP_011510032.1:p.Ala17958Val | |
| XM_011511731.1:c.53732C>T (TTN) | XP_011510033.1:p.Ala17911Val | |
| XM_017004819.1:c.79775C>T (TTN) | XP_016860308.1:p.Ala26592Val | |
| XM_017004820.1:c.75173C>T (TTN) | XP_016860309.1:p.Ala25058Val | |
| XM_017004821.1:c.75170C>T (TTN) | XP_016860310.1:p.Ala25057Val | |
| XM_017004822.1:c.72212C>T (TTN) | XP_016860311.1:p.Ala24071Val | |
| XM_017004823.1:c.53828C>T (TTN) | XP_016860312.1:p.Ala17943Val | |
| XM_024453094.1:c.75323C>T (TTN) | XP_024308862.1:p.Ala25108Val | |
| XM_024453095.1:c.75320C>T (TTN) | XP_024308863.1:p.Ala25107Val | |
| XM_024453096.1:c.74753C>T (TTN) | XP_024308864.1:p.Ala24918Val | |
| XM_024453097.1:c.72095C>T (TTN) | XP_024308865.1:p.Ala24032Val | |
| XM_024453098.1:c.72014C>T (TTN) | XP_024308866.1:p.Ala24005Val | |
| XM_024453099.1:c.53777C>T (TTN) | XP_024308867.1:p.Ala17926Val | |
| XM_024453100.1:c.43631C>T (TTN) | XP_024308868.1:p.Ala14544Val |