Linked Data
ClinVar Variation Id:
202269
dbSNP Id:
rs72677240
ExAC:
2:179480048 A / G
gnomAD v2:
2-179480048-A-G
gnomAD v3:
2-178615321-A-G
gnomAD v4:
2-178615321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615321A>G , CM000664.2:g.178615321A>G | GRCh38 |
| NC_000002.11:g.179480048A>G , CM000664.1:g.179480048A>G | GRCh37 |
| NC_000002.10:g.179188293A>G | NCBI36 |
| NG_011618.3:g.220482T>C , LRG_391:g.220482T>C | |
| NG_051363.1:g.97495A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40920T>C (TTN) | ENSP00000343764.6:p.Pro13640= | |
| ENST00000342175.11:c.22005T>C (TTN) | ENSP00000340554.6:p.Pro7335= | |
| ENST00000359218.10:c.21804T>C (TTN) | ENSP00000352154.5:p.Pro7268= | |
| ENST00000342175.10:c.22005T>C (TTN) | ENSP00000340554.6:p.Pro7335= | |
| ENST00000342992.10:c.40920T>C (TTN) | ENSP00000343764.6:p.Pro13640= | |
| ENST00000359218.9:c.21804T>C (TTN) | ENSP00000352154.5:p.Pro7268= | |
| ENST00000460472.6:c.21429T>C (TTN) | ENSP00000434586.1:p.Pro7143= | |
| ENST00000589042.5:c.48624T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro16208= | |
| ENST00000591111.5:c.43701T>C (TTN) | ENSP00000465570.1:p.Pro14567= | |
| ENST00000615779.4:c.43701T>C (TTN) | ENSP00000483597.1:p.Pro14567= | |
| NM_001256850.1:c.43701T>C (TTN) | NP_001243779.1:p.Pro14567= | |
| NM_001267550.2:c.48624T>C (TTN) MANE Select | NP_001254479.2:p.Pro16208= | |
| NM_003319.4:c.21429T>C (TTN) | NP_003310.4:p.Pro7143= | |
| NM_133378.4:c.40920T>C (TTN) | NP_596869.4:p.Pro13640= | |
| NM_133432.3:c.21804T>C (TTN) | NP_597676.3:p.Pro7268= | |
| NM_133437.4:c.22005T>C (TTN) | NP_597681.4:p.Pro7335= | |
| NR_038271.1:n.1553-2A>G (TTN-AS1) | ||
| XM_011511729.1:c.47721T>C (TTN) | XP_011510031.1:p.Pro15907= | |
| XM_011511730.1:c.21615T>C (TTN) | XP_011510032.1:p.Pro7205= | |
| XM_011511731.1:c.21474T>C (TTN) | XP_011510033.1:p.Pro7158= | |
| XM_017004819.1:c.47517T>C (TTN) | XP_016860308.1:p.Pro15839= | |
| XM_017004820.1:c.42915T>C (TTN) | XP_016860309.1:p.Pro14305= | |
| XM_017004821.1:c.42912T>C (TTN) | XP_016860310.1:p.Pro14304= | |
| XM_017004822.1:c.39954T>C (TTN) | XP_016860311.1:p.Pro13318= | |
| XM_017004823.1:c.21570T>C (TTN) | XP_016860312.1:p.Pro7190= | |
| XM_024453094.1:c.43065T>C (TTN) | XP_024308862.1:p.Pro14355= | |
| XM_024453095.1:c.43062T>C (TTN) | XP_024308863.1:p.Pro14354= | |
| XM_024453096.1:c.42495T>C (TTN) | XP_024308864.1:p.Pro14165= | |
| XM_024453097.1:c.39837T>C (TTN) | XP_024308865.1:p.Pro13279= | |
| XM_024453098.1:c.39756T>C (TTN) | XP_024308866.1:p.Pro13252= | |
| XM_024453099.1:c.21519T>C (TTN) | XP_024308867.1:p.Pro7173= | |
| XM_024453100.1:c.11373T>C (TTN) | XP_024308868.1:p.Pro3791= |