Linked Data
ClinVar Variation Id:
228144
ClinVar RCV Id:
RCV000219488
RCV000315000
RCV000280449
RCV000349422
RCV000351022
RCV000375368
RCV001464809
RCV003343708
dbSNP Id:
rs375553630
ExAC:
2:179434185 A / G
gnomAD v2:
2-179434185-A-G
gnomAD v3:
2-178569458-A-G
gnomAD v4:
2-178569458-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569458A>G , CM000664.2:g.178569458A>G | GRCh38 |
| NC_000002.11:g.179434185A>G , CM000664.1:g.179434185A>G | GRCh37 |
| NC_000002.10:g.179142431A>G | NCBI36 |
| NG_011618.3:g.266345T>C , LRG_391:g.266345T>C | |
| NG_051363.1:g.51632A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68970T>C (TTN) | ENSP00000343764.6:p.Asp22990= | |
| ENST00000342175.11:c.50055T>C (TTN) | ENSP00000340554.6:p.Asp16685= | |
| ENST00000359218.10:c.49854T>C (TTN) | ENSP00000352154.5:p.Asp16618= | |
| ENST00000342175.10:c.50055T>C (TTN) | ENSP00000340554.6:p.Asp16685= | |
| ENST00000342992.10:c.68970T>C (TTN) | ENSP00000343764.6:p.Asp22990= | |
| ENST00000359218.9:c.49854T>C (TTN) | ENSP00000352154.5:p.Asp16618= | |
| ENST00000460472.6:c.49479T>C (TTN) | ENSP00000434586.1:p.Asp16493= | |
| ENST00000589042.5:c.76674T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp25558= | |
| ENST00000591111.5:c.71751T>C (TTN) | ENSP00000465570.1:p.Asp23917= | |
| ENST00000615779.4:c.71751T>C (TTN) | ENSP00000483597.1:p.Asp23917= | |
| NM_001256850.1:c.71751T>C (TTN) | NP_001243779.1:p.Asp23917= | |
| NM_001267550.2:c.76674T>C (TTN) MANE Select | NP_001254479.2:p.Asp25558= | |
| NM_003319.4:c.49479T>C (TTN) | NP_003310.4:p.Asp16493= | |
| NM_133378.4:c.68970T>C (TTN) | NP_596869.4:p.Asp22990= | |
| NM_133432.3:c.49854T>C (TTN) | NP_597676.3:p.Asp16618= | |
| NM_133437.4:c.50055T>C (TTN) | NP_597681.4:p.Asp16685= | |
| NR_038271.1:n.447-1842A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13114A>G (TTN-AS1) | ||
| XM_011511729.1:c.75771T>C (TTN) | XP_011510031.1:p.Asp25257= | |
| XM_011511730.1:c.49665T>C (TTN) | XP_011510032.1:p.Asp16555= | |
| XM_011511731.1:c.49524T>C (TTN) | XP_011510033.1:p.Asp16508= | |
| XM_017004819.1:c.75567T>C (TTN) | XP_016860308.1:p.Asp25189= | |
| XM_017004820.1:c.70965T>C (TTN) | XP_016860309.1:p.Asp23655= | |
| XM_017004821.1:c.70962T>C (TTN) | XP_016860310.1:p.Asp23654= | |
| XM_017004822.1:c.68004T>C (TTN) | XP_016860311.1:p.Asp22668= | |
| XM_017004823.1:c.49620T>C (TTN) | XP_016860312.1:p.Asp16540= | |
| XM_024453094.1:c.71115T>C (TTN) | XP_024308862.1:p.Asp23705= | |
| XM_024453095.1:c.71112T>C (TTN) | XP_024308863.1:p.Asp23704= | |
| XM_024453096.1:c.70545T>C (TTN) | XP_024308864.1:p.Asp23515= | |
| XM_024453097.1:c.67887T>C (TTN) | XP_024308865.1:p.Asp22629= | |
| XM_024453098.1:c.67806T>C (TTN) | XP_024308866.1:p.Asp22602= | |
| XM_024453099.1:c.49569T>C (TTN) | XP_024308867.1:p.Asp16523= | |
| XM_024453100.1:c.39423T>C (TTN) | XP_024308868.1:p.Asp13141= |