Linked Data
ClinVar Variation Id:
195711
dbSNP Id:
rs752571545
ExAC:
2:179473364 A / G
gnomAD v2:
2-179473364-A-G
gnomAD v3:
2-178608637-A-G
gnomAD v4:
2-178608637-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608637A>G , CM000664.2:g.178608637A>G | GRCh38 |
| NC_000002.11:g.179473364A>G , CM000664.1:g.179473364A>G | GRCh37 |
| NC_000002.10:g.179181609A>G | NCBI36 |
| NG_011618.3:g.227166T>C , LRG_391:g.227166T>C | |
| NG_051363.1:g.90811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44670T>C (TTN) | ENSP00000343764.6:p.Val14890= | |
| ENST00000342175.11:c.25755T>C (TTN) | ENSP00000340554.6:p.Val8585= | |
| ENST00000359218.10:c.25554T>C (TTN) | ENSP00000352154.5:p.Val8518= | |
| ENST00000342175.10:c.25755T>C (TTN) | ENSP00000340554.6:p.Val8585= | |
| ENST00000342992.10:c.44670T>C (TTN) | ENSP00000343764.6:p.Val14890= | |
| ENST00000359218.9:c.25554T>C (TTN) | ENSP00000352154.5:p.Val8518= | |
| ENST00000460472.6:c.25179T>C (TTN) | ENSP00000434586.1:p.Val8393= | |
| ENST00000589042.5:c.52374T>C (TTN) MANE Select | ENSP00000467141.1:p.Val17458= | |
| ENST00000591111.5:c.47451T>C (TTN) | ENSP00000465570.1:p.Val15817= | |
| ENST00000615779.4:c.47451T>C (TTN) | ENSP00000483597.1:p.Val15817= | |
| NM_001256850.1:c.47451T>C (TTN) | NP_001243779.1:p.Val15817= | |
| NM_001267550.2:c.52374T>C (TTN) MANE Select | NP_001254479.2:p.Val17458= | |
| NM_003319.4:c.25179T>C (TTN) | NP_003310.4:p.Val8393= | |
| NM_133378.4:c.44670T>C (TTN) | NP_596869.4:p.Val14890= | |
| NM_133432.3:c.25554T>C (TTN) | NP_597676.3:p.Val8518= | |
| NM_133437.4:c.25755T>C (TTN) | NP_597681.4:p.Val8585= | |
| NR_038271.1:n.782+371A>G (TTN-AS1) | ||
| XM_011511729.1:c.51471T>C (TTN) | XP_011510031.1:p.Val17157= | |
| XM_011511730.1:c.25365T>C (TTN) | XP_011510032.1:p.Val8455= | |
| XM_011511731.1:c.25224T>C (TTN) | XP_011510033.1:p.Val8408= | |
| XM_017004819.1:c.51267T>C (TTN) | XP_016860308.1:p.Val17089= | |
| XM_017004820.1:c.46665T>C (TTN) | XP_016860309.1:p.Val15555= | |
| XM_017004821.1:c.46662T>C (TTN) | XP_016860310.1:p.Val15554= | |
| XM_017004822.1:c.43704T>C (TTN) | XP_016860311.1:p.Val14568= | |
| XM_017004823.1:c.25320T>C (TTN) | XP_016860312.1:p.Val8440= | |
| XM_024453094.1:c.46815T>C (TTN) | XP_024308862.1:p.Val15605= | |
| XM_024453095.1:c.46812T>C (TTN) | XP_024308863.1:p.Val15604= | |
| XM_024453096.1:c.46245T>C (TTN) | XP_024308864.1:p.Val15415= | |
| XM_024453097.1:c.43587T>C (TTN) | XP_024308865.1:p.Val14529= | |
| XM_024453098.1:c.43506T>C (TTN) | XP_024308866.1:p.Val14502= | |
| XM_024453099.1:c.25269T>C (TTN) | XP_024308867.1:p.Val8423= | |
| XM_024453100.1:c.15123T>C (TTN) | XP_024308868.1:p.Val5041= |