Linked Data
ClinVar Variation Id:
378830
dbSNP Id:
rs371317486
ExAC:
2:179407306 A / C
gnomAD v2:
2-179407306-A-C
gnomAD v3:
2-178542579-A-C
gnomAD v4:
2-178542579-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542579A>C , CM000664.2:g.178542579A>C | GRCh38 |
| NC_000002.11:g.179407306A>C , CM000664.1:g.179407306A>C | GRCh37 |
| NC_000002.10:g.179115552A>C | NCBI36 |
| NG_011618.3:g.293224T>G , LRG_391:g.293224T>G | |
| NG_051363.1:g.24753A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89489-16T>G (TTN) | ENSP00000343764.6:n.89489-16T>G | |
| ENST00000342175.11:c.70574-16T>G (TTN) | ENSP00000340554.6:n.70574-16T>G | |
| ENST00000359218.10:c.70373-16T>G (TTN) | ENSP00000352154.5:n.70373-16T>G | |
| ENST00000342175.10:c.70574-16T>G (TTN) | ENSP00000340554.6:n.70574-16T>G | |
| ENST00000342992.10:c.89489-16T>G (TTN) | ENSP00000343764.6:n.89489-16T>G | |
| ENST00000359218.9:c.70373-16T>G (TTN) | ENSP00000352154.5:n.70373-16T>G | |
| ENST00000460472.6:c.69998-16T>G (TTN) | ENSP00000434586.1:n.69998-16T>G | |
| ENST00000589042.5:c.97193-16T>G (TTN) MANE Select | ENSP00000467141.1:n.97193-16T>G | |
| ENST00000591111.5:c.92270-16T>G (TTN) | ENSP00000465570.1:n.92270-16T>G | |
| ENST00000615779.4:c.92270-16T>G (TTN) | ENSP00000483597.1:n.92270-16T>G | |
| NM_001256850.1:c.92270-16T>G (TTN) | NP_001243779.1:n.92270-16T>G | |
| NM_001267550.2:c.97193-16T>G (TTN) MANE Select | NP_001254479.2:n.97193-16T>G | |
| NM_003319.4:c.69998-16T>G (TTN) | NP_003310.4:n.69998-16T>G | |
| NM_133378.4:c.89489-16T>G (TTN) | NP_596869.4:n.89489-16T>G | |
| NM_133432.3:c.70373-16T>G (TTN) | NP_597676.3:n.70373-16T>G | |
| NM_133437.4:c.70574-16T>G (TTN) | NP_597681.4:n.70574-16T>G | |
| NR_038271.1:n.446+18943A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+218A>C (TTN-AS1) | ||
| XM_011511729.1:c.96290-16T>G (TTN) | XP_011510031.1:n.96290-16T>G | |
| XM_011511730.1:c.70184-16T>G (TTN) | XP_011510032.1:n.70184-16T>G | |
| XM_011511731.1:c.70043-16T>G (TTN) | XP_011510033.1:n.70043-16T>G | |
| XM_017004819.1:c.96086-16T>G (TTN) | XP_016860308.1:n.96086-16T>G | |
| XM_017004820.1:c.91484-16T>G (TTN) | XP_016860309.1:n.91484-16T>G | |
| XM_017004821.1:c.91481-16T>G (TTN) | XP_016860310.1:n.91481-16T>G | |
| XM_017004822.1:c.88523-16T>G (TTN) | XP_016860311.1:n.88523-16T>G | |
| XM_017004823.1:c.70139-16T>G (TTN) | XP_016860312.1:n.70139-16T>G | |
| XM_024453094.1:c.91634-16T>G (TTN) | XP_024308862.1:n.91634-16T>G | |
| XM_024453095.1:c.91631-16T>G (TTN) | XP_024308863.1:n.91631-16T>G | |
| XM_024453096.1:c.91064-16T>G (TTN) | XP_024308864.1:n.91064-16T>G | |
| XM_024453097.1:c.88406-16T>G (TTN) | XP_024308865.1:n.88406-16T>G | |
| XM_024453098.1:c.88325-16T>G (TTN) | XP_024308866.1:n.88325-16T>G | |
| XM_024453099.1:c.70088-16T>G (TTN) | XP_024308867.1:n.70088-16T>G | |
| XM_024453100.1:c.59942-16T>G (TTN) | XP_024308868.1:n.59942-16T>G |