Linked Data
ClinVar Variation Id:
47289
ClinVar RCV Id:
RCV000040559
RCV000225796
RCV000247488
RCV000768943
RCV001135084
RCV001135085
RCV001135086
RCV001079505
RCV001135087
RCV001135088
RCV004528215
dbSNP Id:
rs72646890
ExAC:
2:179440182 A / G
gnomAD v2:
2-179440182-A-G
gnomAD v3:
2-178575455-A-G
gnomAD v4:
2-178575455-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575455A>G , CM000664.2:g.178575455A>G | GRCh38 |
| NC_000002.11:g.179440182A>G , CM000664.1:g.179440182A>G | GRCh37 |
| NC_000002.10:g.179148428A>G | NCBI36 |
| NG_011618.3:g.260348T>C , LRG_391:g.260348T>C | |
| NG_051363.1:g.57629A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62973T>C (TTN) | ENSP00000343764.6:p.Asp20991= | |
| ENST00000342175.11:c.44058T>C (TTN) | ENSP00000340554.6:p.Asp14686= | |
| ENST00000359218.10:c.43857T>C (TTN) | ENSP00000352154.5:p.Asp14619= | |
| ENST00000342175.10:c.44058T>C (TTN) | ENSP00000340554.6:p.Asp14686= | |
| ENST00000342992.10:c.62973T>C (TTN) | ENSP00000343764.6:p.Asp20991= | |
| ENST00000359218.9:c.43857T>C (TTN) | ENSP00000352154.5:p.Asp14619= | |
| ENST00000460472.6:c.43482T>C (TTN) | ENSP00000434586.1:p.Asp14494= | |
| ENST00000589042.5:c.70677T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp23559= | |
| ENST00000591111.5:c.65754T>C (TTN) | ENSP00000465570.1:p.Asp21918= | |
| ENST00000615779.4:c.65754T>C (TTN) | ENSP00000483597.1:p.Asp21918= | |
| NM_001256850.1:c.65754T>C (TTN) | NP_001243779.1:p.Asp21918= | |
| NM_001267550.2:c.70677T>C (TTN) MANE Select | NP_001254479.2:p.Asp23559= | |
| NM_003319.4:c.43482T>C (TTN) | NP_003310.4:p.Asp14494= | |
| NM_133378.4:c.62973T>C (TTN) | NP_596869.4:p.Asp20991= | |
| NM_133432.3:c.43857T>C (TTN) | NP_597676.3:p.Asp14619= | |
| NM_133437.4:c.44058T>C (TTN) | NP_597681.4:p.Asp14686= | |
| NR_038271.1:n.596+4006A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-7117A>G (TTN-AS1) | ||
| XM_011511729.1:c.69774T>C (TTN) | XP_011510031.1:p.Asp23258= | |
| XM_011511730.1:c.43668T>C (TTN) | XP_011510032.1:p.Asp14556= | |
| XM_011511731.1:c.43527T>C (TTN) | XP_011510033.1:p.Asp14509= | |
| XM_017004819.1:c.69570T>C (TTN) | XP_016860308.1:p.Asp23190= | |
| XM_017004820.1:c.64968T>C (TTN) | XP_016860309.1:p.Asp21656= | |
| XM_017004821.1:c.64965T>C (TTN) | XP_016860310.1:p.Asp21655= | |
| XM_017004822.1:c.62007T>C (TTN) | XP_016860311.1:p.Asp20669= | |
| XM_017004823.1:c.43623T>C (TTN) | XP_016860312.1:p.Asp14541= | |
| XM_024453094.1:c.65118T>C (TTN) | XP_024308862.1:p.Asp21706= | |
| XM_024453095.1:c.65115T>C (TTN) | XP_024308863.1:p.Asp21705= | |
| XM_024453096.1:c.64548T>C (TTN) | XP_024308864.1:p.Asp21516= | |
| XM_024453097.1:c.61890T>C (TTN) | XP_024308865.1:p.Asp20630= | |
| XM_024453098.1:c.61809T>C (TTN) | XP_024308866.1:p.Asp20603= | |
| XM_024453099.1:c.43572T>C (TTN) | XP_024308867.1:p.Asp14524= | |
| XM_024453100.1:c.33426T>C (TTN) | XP_024308868.1:p.Asp11142= |