Linked Data
ClinVar Variation Id:
500169
dbSNP Id:
rs372800320
ExAC:
2:179433822 A / G
gnomAD v2:
2-179433822-A-G
gnomAD v3:
2-178569095-A-G
gnomAD v4:
2-178569095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569095A>G , CM000664.2:g.178569095A>G | GRCh38 |
| NC_000002.11:g.179433822A>G , CM000664.1:g.179433822A>G | GRCh37 |
| NC_000002.10:g.179142068A>G | NCBI36 |
| NG_011618.3:g.266708T>C , LRG_391:g.266708T>C | |
| NG_051363.1:g.51269A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69333T>C (TTN) | ENSP00000343764.6:p.Asn23111= | |
| ENST00000342175.11:c.50418T>C (TTN) | ENSP00000340554.6:p.Asn16806= | |
| ENST00000359218.10:c.50217T>C (TTN) | ENSP00000352154.5:p.Asn16739= | |
| ENST00000342175.10:c.50418T>C (TTN) | ENSP00000340554.6:p.Asn16806= | |
| ENST00000342992.10:c.69333T>C (TTN) | ENSP00000343764.6:p.Asn23111= | |
| ENST00000359218.9:c.50217T>C (TTN) | ENSP00000352154.5:p.Asn16739= | |
| ENST00000460472.6:c.49842T>C (TTN) | ENSP00000434586.1:p.Asn16614= | |
| ENST00000589042.5:c.77037T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn25679= | |
| ENST00000591111.5:c.72114T>C (TTN) | ENSP00000465570.1:p.Asn24038= | |
| ENST00000615779.4:c.72114T>C (TTN) | ENSP00000483597.1:p.Asn24038= | |
| NM_001256850.1:c.72114T>C (TTN) | NP_001243779.1:p.Asn24038= | |
| NM_001267550.2:c.77037T>C (TTN) MANE Select | NP_001254479.2:p.Asn25679= | |
| NM_003319.4:c.49842T>C (TTN) | NP_003310.4:p.Asn16614= | |
| NM_133378.4:c.69333T>C (TTN) | NP_596869.4:p.Asn23111= | |
| NM_133432.3:c.50217T>C (TTN) | NP_597676.3:p.Asn16739= | |
| NM_133437.4:c.50418T>C (TTN) | NP_597681.4:p.Asn16806= | |
| NR_038271.1:n.447-2205A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13477A>G (TTN-AS1) | ||
| XM_011511729.1:c.76134T>C (TTN) | XP_011510031.1:p.Asn25378= | |
| XM_011511730.1:c.50028T>C (TTN) | XP_011510032.1:p.Asn16676= | |
| XM_011511731.1:c.49887T>C (TTN) | XP_011510033.1:p.Asn16629= | |
| XM_017004819.1:c.75930T>C (TTN) | XP_016860308.1:p.Asn25310= | |
| XM_017004820.1:c.71328T>C (TTN) | XP_016860309.1:p.Asn23776= | |
| XM_017004821.1:c.71325T>C (TTN) | XP_016860310.1:p.Asn23775= | |
| XM_017004822.1:c.68367T>C (TTN) | XP_016860311.1:p.Asn22789= | |
| XM_017004823.1:c.49983T>C (TTN) | XP_016860312.1:p.Asn16661= | |
| XM_024453094.1:c.71478T>C (TTN) | XP_024308862.1:p.Asn23826= | |
| XM_024453095.1:c.71475T>C (TTN) | XP_024308863.1:p.Asn23825= | |
| XM_024453096.1:c.70908T>C (TTN) | XP_024308864.1:p.Asn23636= | |
| XM_024453097.1:c.68250T>C (TTN) | XP_024308865.1:p.Asn22750= | |
| XM_024453098.1:c.68169T>C (TTN) | XP_024308866.1:p.Asn22723= | |
| XM_024453099.1:c.49932T>C (TTN) | XP_024308867.1:p.Asn16644= | |
| XM_024453100.1:c.39786T>C (TTN) | XP_024308868.1:p.Asn13262= |