Linked Data
ClinVar Variation Id:
332766
ClinVar RCV Id:
RCV000278202
RCV000312374
RCV000367597
RCV000399453
RCV000445100
RCV000401256
RCV000727491
RCV001086740
RCV002348080
dbSNP Id:
rs748292845
ExAC:
2:179430273 G / A
gnomAD v2:
2-179430273-G-A
gnomAD v3:
2-178565546-G-A
gnomAD v4:
2-178565546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565546G>A , CM000664.2:g.178565546G>A | GRCh38 |
| NC_000002.11:g.179430273G>A , CM000664.1:g.179430273G>A | GRCh37 |
| NC_000002.10:g.179138519G>A | NCBI36 |
| NG_011618.3:g.270257C>T , LRG_391:g.270257C>T | |
| NG_051363.1:g.47720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72882C>T (TTN) | ENSP00000343764.6:p.Ser24294= | |
| ENST00000342175.11:c.53967C>T (TTN) | ENSP00000340554.6:p.Ser17989= | |
| ENST00000359218.10:c.53766C>T (TTN) | ENSP00000352154.5:p.Ser17922= | |
| ENST00000342175.10:c.53967C>T (TTN) | ENSP00000340554.6:p.Ser17989= | |
| ENST00000342992.10:c.72882C>T (TTN) | ENSP00000343764.6:p.Ser24294= | |
| ENST00000359218.9:c.53766C>T (TTN) | ENSP00000352154.5:p.Ser17922= | |
| ENST00000460472.6:c.53391C>T (TTN) | ENSP00000434586.1:p.Ser17797= | |
| ENST00000589042.5:c.80586C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser26862= | |
| ENST00000591111.5:c.75663C>T (TTN) | ENSP00000465570.1:p.Ser25221= | |
| ENST00000615779.4:c.75663C>T (TTN) | ENSP00000483597.1:p.Ser25221= | |
| NM_001256850.1:c.75663C>T (TTN) | NP_001243779.1:p.Ser25221= | |
| NM_001267550.2:c.80586C>T (TTN) MANE Select | NP_001254479.2:p.Ser26862= | |
| NM_003319.4:c.53391C>T (TTN) | NP_003310.4:p.Ser17797= | |
| NM_133378.4:c.72882C>T (TTN) | NP_596869.4:p.Ser24294= | |
| NM_133432.3:c.53766C>T (TTN) | NP_597676.3:p.Ser17922= | |
| NM_133437.4:c.53967C>T (TTN) | NP_597681.4:p.Ser17989= | |
| NR_038271.1:n.447-5754G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17026G>A (TTN-AS1) | ||
| XM_011511729.1:c.79683C>T (TTN) | XP_011510031.1:p.Ser26561= | |
| XM_011511730.1:c.53577C>T (TTN) | XP_011510032.1:p.Ser17859= | |
| XM_011511731.1:c.53436C>T (TTN) | XP_011510033.1:p.Ser17812= | |
| XM_017004819.1:c.79479C>T (TTN) | XP_016860308.1:p.Ser26493= | |
| XM_017004820.1:c.74877C>T (TTN) | XP_016860309.1:p.Ser24959= | |
| XM_017004821.1:c.74874C>T (TTN) | XP_016860310.1:p.Ser24958= | |
| XM_017004822.1:c.71916C>T (TTN) | XP_016860311.1:p.Ser23972= | |
| XM_017004823.1:c.53532C>T (TTN) | XP_016860312.1:p.Ser17844= | |
| XM_024453094.1:c.75027C>T (TTN) | XP_024308862.1:p.Ser25009= | |
| XM_024453095.1:c.75024C>T (TTN) | XP_024308863.1:p.Ser25008= | |
| XM_024453096.1:c.74457C>T (TTN) | XP_024308864.1:p.Ser24819= | |
| XM_024453097.1:c.71799C>T (TTN) | XP_024308865.1:p.Ser23933= | |
| XM_024453098.1:c.71718C>T (TTN) | XP_024308866.1:p.Ser23906= | |
| XM_024453099.1:c.53481C>T (TTN) | XP_024308867.1:p.Ser17827= | |
| XM_024453100.1:c.43335C>T (TTN) | XP_024308868.1:p.Ser14445= |