Linked Data
ClinVar Variation Id:
389763
dbSNP Id:
rs771792080
ExAC:
2:179472034 A / G
gnomAD v2:
2-179472034-A-G
gnomAD v3:
2-178607307-A-G
gnomAD v4:
2-178607307-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607307A>G , CM000664.2:g.178607307A>G | GRCh38 |
| NC_000002.11:g.179472034A>G , CM000664.1:g.179472034A>G | GRCh37 |
| NC_000002.10:g.179180279A>G | NCBI36 |
| NG_011618.3:g.228496T>C , LRG_391:g.228496T>C | |
| NG_051363.1:g.89481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45591T>C (TTN) | ENSP00000343764.6:p.Pro15197= | |
| ENST00000342175.11:c.26676T>C (TTN) | ENSP00000340554.6:p.Pro8892= | |
| ENST00000359218.10:c.26475T>C (TTN) | ENSP00000352154.5:p.Pro8825= | |
| ENST00000342175.10:c.26676T>C (TTN) | ENSP00000340554.6:p.Pro8892= | |
| ENST00000342992.10:c.45591T>C (TTN) | ENSP00000343764.6:p.Pro15197= | |
| ENST00000359218.9:c.26475T>C (TTN) | ENSP00000352154.5:p.Pro8825= | |
| ENST00000460472.6:c.26100T>C (TTN) | ENSP00000434586.1:p.Pro8700= | |
| ENST00000589042.5:c.53295T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro17765= | |
| ENST00000591111.5:c.48372T>C (TTN) | ENSP00000465570.1:p.Pro16124= | |
| ENST00000615779.4:c.48372T>C (TTN) | ENSP00000483597.1:p.Pro16124= | |
| NM_001256850.1:c.48372T>C (TTN) | NP_001243779.1:p.Pro16124= | |
| NM_001267550.2:c.53295T>C (TTN) MANE Select | NP_001254479.2:p.Pro17765= | |
| NM_003319.4:c.26100T>C (TTN) | NP_003310.4:p.Pro8700= | |
| NM_133378.4:c.45591T>C (TTN) | NP_596869.4:p.Pro15197= | |
| NM_133432.3:c.26475T>C (TTN) | NP_597676.3:p.Pro8825= | |
| NM_133437.4:c.26676T>C (TTN) | NP_597681.4:p.Pro8892= | |
| NR_038271.1:n.683-860A>G (TTN-AS1) | ||
| XM_011511729.1:c.52392T>C (TTN) | XP_011510031.1:p.Pro17464= | |
| XM_011511730.1:c.26286T>C (TTN) | XP_011510032.1:p.Pro8762= | |
| XM_011511731.1:c.26145T>C (TTN) | XP_011510033.1:p.Pro8715= | |
| XM_017004819.1:c.52188T>C (TTN) | XP_016860308.1:p.Pro17396= | |
| XM_017004820.1:c.47586T>C (TTN) | XP_016860309.1:p.Pro15862= | |
| XM_017004821.1:c.47583T>C (TTN) | XP_016860310.1:p.Pro15861= | |
| XM_017004822.1:c.44625T>C (TTN) | XP_016860311.1:p.Pro14875= | |
| XM_017004823.1:c.26241T>C (TTN) | XP_016860312.1:p.Pro8747= | |
| XM_024453094.1:c.47736T>C (TTN) | XP_024308862.1:p.Pro15912= | |
| XM_024453095.1:c.47733T>C (TTN) | XP_024308863.1:p.Pro15911= | |
| XM_024453096.1:c.47166T>C (TTN) | XP_024308864.1:p.Pro15722= | |
| XM_024453097.1:c.44508T>C (TTN) | XP_024308865.1:p.Pro14836= | |
| XM_024453098.1:c.44427T>C (TTN) | XP_024308866.1:p.Pro14809= | |
| XM_024453099.1:c.26190T>C (TTN) | XP_024308867.1:p.Pro8730= | |
| XM_024453100.1:c.16044T>C (TTN) | XP_024308868.1:p.Pro5348= |