Linked Data
ClinVar Variation Id:
501789
dbSNP Id:
rs368844570
ExAC:
2:179398802 A / G
gnomAD v2:
2-179398802-A-G
gnomAD v3:
2-178534075-A-G
gnomAD v4:
2-178534075-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534075A>G , CM000664.2:g.178534075A>G | GRCh38 |
| NC_000002.11:g.179398802A>G , CM000664.1:g.179398802A>G | GRCh37 |
| NC_000002.10:g.179107048A>G | NCBI36 |
| NG_011618.3:g.301728T>C , LRG_391:g.301728T>C | |
| NG_051363.1:g.16249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94836T>C (TTN) | ENSP00000343764.6:p.Ser31612= | |
| ENST00000342175.11:c.75921T>C (TTN) | ENSP00000340554.6:p.Ser25307= | |
| ENST00000359218.10:c.75720T>C (TTN) | ENSP00000352154.5:p.Ser25240= | |
| ENST00000342175.10:c.75921T>C (TTN) | ENSP00000340554.6:p.Ser25307= | |
| ENST00000342992.10:c.94836T>C (TTN) | ENSP00000343764.6:p.Ser31612= | |
| ENST00000359218.9:c.75720T>C (TTN) | ENSP00000352154.5:p.Ser25240= | |
| ENST00000460472.6:c.75345T>C (TTN) | ENSP00000434586.1:p.Ser25115= | |
| ENST00000589042.5:c.102540T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser34180= | |
| ENST00000591111.5:c.97617T>C (TTN) | ENSP00000465570.1:p.Ser32539= | |
| ENST00000615779.4:c.97617T>C (TTN) | ENSP00000483597.1:p.Ser32539= | |
| NM_001256850.1:c.97617T>C (TTN) | NP_001243779.1:p.Ser32539= | |
| NM_001267550.2:c.102540T>C (TTN) MANE Select | NP_001254479.2:p.Ser34180= | |
| NM_003319.4:c.75345T>C (TTN) | NP_003310.4:p.Ser25115= | |
| NM_133378.4:c.94836T>C (TTN) | NP_596869.4:p.Ser31612= | |
| NM_133432.3:c.75720T>C (TTN) | NP_597676.3:p.Ser25240= | |
| NM_133437.4:c.75921T>C (TTN) | NP_597681.4:p.Ser25307= | |
| NR_038271.1:n.446+10439A>G (TTN-AS1) | ||
| NR_038272.1:n.220-1657A>G (TTN-AS1) | ||
| XM_011511729.1:c.101637T>C (TTN) | XP_011510031.1:p.Ser33879= | |
| XM_011511730.1:c.75531T>C (TTN) | XP_011510032.1:p.Ser25177= | |
| XM_011511731.1:c.75390T>C (TTN) | XP_011510033.1:p.Ser25130= | |
| XM_017004819.1:c.101433T>C (TTN) | XP_016860308.1:p.Ser33811= | |
| XM_017004820.1:c.96831T>C (TTN) | XP_016860309.1:p.Ser32277= | |
| XM_017004821.1:c.96828T>C (TTN) | XP_016860310.1:p.Ser32276= | |
| XM_017004822.1:c.93870T>C (TTN) | XP_016860311.1:p.Ser31290= | |
| XM_017004823.1:c.75486T>C (TTN) | XP_016860312.1:p.Ser25162= | |
| XM_024453094.1:c.96981T>C (TTN) | XP_024308862.1:p.Ser32327= | |
| XM_024453095.1:c.96978T>C (TTN) | XP_024308863.1:p.Ser32326= | |
| XM_024453096.1:c.96411T>C (TTN) | XP_024308864.1:p.Ser32137= | |
| XM_024453097.1:c.93753T>C (TTN) | XP_024308865.1:p.Ser31251= | |
| XM_024453098.1:c.93672T>C (TTN) | XP_024308866.1:p.Ser31224= | |
| XM_024453099.1:c.75435T>C (TTN) | XP_024308867.1:p.Ser25145= | |
| XM_024453100.1:c.65289T>C (TTN) | XP_024308868.1:p.Ser21763= |