Linked Data
ClinVar Variation Id:
502405
dbSNP Id:
rs765706611
ExAC:
2:179429712 A / G
gnomAD v2:
2-179429712-A-G
gnomAD v3:
2-178564985-A-G
gnomAD v4:
2-178564985-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564985A>G , CM000664.2:g.178564985A>G | GRCh38 |
| NC_000002.11:g.179429712A>G , CM000664.1:g.179429712A>G | GRCh37 |
| NC_000002.10:g.179137958A>G | NCBI36 |
| NG_011618.3:g.270818T>C , LRG_391:g.270818T>C | |
| NG_051363.1:g.47159A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73443T>C (TTN) | ENSP00000343764.6:p.Ala24481= | |
| ENST00000342175.11:c.54528T>C (TTN) | ENSP00000340554.6:p.Ala18176= | |
| ENST00000359218.10:c.54327T>C (TTN) | ENSP00000352154.5:p.Ala18109= | |
| ENST00000342175.10:c.54528T>C (TTN) | ENSP00000340554.6:p.Ala18176= | |
| ENST00000342992.10:c.73443T>C (TTN) | ENSP00000343764.6:p.Ala24481= | |
| ENST00000359218.9:c.54327T>C (TTN) | ENSP00000352154.5:p.Ala18109= | |
| ENST00000460472.6:c.53952T>C (TTN) | ENSP00000434586.1:p.Ala17984= | |
| ENST00000589042.5:c.81147T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala27049= | |
| ENST00000591111.5:c.76224T>C (TTN) | ENSP00000465570.1:p.Ala25408= | |
| ENST00000615779.4:c.76224T>C (TTN) | ENSP00000483597.1:p.Ala25408= | |
| NM_001256850.1:c.76224T>C (TTN) | NP_001243779.1:p.Ala25408= | |
| NM_001267550.2:c.81147T>C (TTN) MANE Select | NP_001254479.2:p.Ala27049= | |
| NM_003319.4:c.53952T>C (TTN) | NP_003310.4:p.Ala17984= | |
| NM_133378.4:c.73443T>C (TTN) | NP_596869.4:p.Ala24481= | |
| NM_133432.3:c.54327T>C (TTN) | NP_597676.3:p.Ala18109= | |
| NM_133437.4:c.54528T>C (TTN) | NP_597681.4:p.Ala18176= | |
| NR_038271.1:n.447-6315A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17587A>G (TTN-AS1) | ||
| XM_011511729.1:c.80244T>C (TTN) | XP_011510031.1:p.Ala26748= | |
| XM_011511730.1:c.54138T>C (TTN) | XP_011510032.1:p.Ala18046= | |
| XM_011511731.1:c.53997T>C (TTN) | XP_011510033.1:p.Ala17999= | |
| XM_017004819.1:c.80040T>C (TTN) | XP_016860308.1:p.Ala26680= | |
| XM_017004820.1:c.75438T>C (TTN) | XP_016860309.1:p.Ala25146= | |
| XM_017004821.1:c.75435T>C (TTN) | XP_016860310.1:p.Ala25145= | |
| XM_017004822.1:c.72477T>C (TTN) | XP_016860311.1:p.Ala24159= | |
| XM_017004823.1:c.54093T>C (TTN) | XP_016860312.1:p.Ala18031= | |
| XM_024453094.1:c.75588T>C (TTN) | XP_024308862.1:p.Ala25196= | |
| XM_024453095.1:c.75585T>C (TTN) | XP_024308863.1:p.Ala25195= | |
| XM_024453096.1:c.75018T>C (TTN) | XP_024308864.1:p.Ala25006= | |
| XM_024453097.1:c.72360T>C (TTN) | XP_024308865.1:p.Ala24120= | |
| XM_024453098.1:c.72279T>C (TTN) | XP_024308866.1:p.Ala24093= | |
| XM_024453099.1:c.54042T>C (TTN) | XP_024308867.1:p.Ala18014= | |
| XM_024453100.1:c.43896T>C (TTN) | XP_024308868.1:p.Ala14632= |