Linked Data
ClinVar Variation Id:
535475
dbSNP Id:
rs1423712037
gnomAD v2:
2-179438628-T-C
gnomAD v4:
2-178573901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573901T>C , CM000664.2:g.178573901T>C | GRCh38 |
| NC_000002.11:g.179438628T>C , CM000664.1:g.179438628T>C | GRCh37 |
| NC_000002.10:g.179146874T>C | NCBI36 |
| NG_011618.3:g.261902A>G , LRG_391:g.261902A>G | |
| NG_051363.1:g.56075T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64527A>G (TTN) | ENSP00000343764.6:p.Glu21509= | |
| ENST00000342175.11:c.45612A>G (TTN) | ENSP00000340554.6:p.Glu15204= | |
| ENST00000359218.10:c.45411A>G (TTN) | ENSP00000352154.5:p.Glu15137= | |
| ENST00000342175.10:c.45612A>G (TTN) | ENSP00000340554.6:p.Glu15204= | |
| ENST00000342992.10:c.64527A>G (TTN) | ENSP00000343764.6:p.Glu21509= | |
| ENST00000359218.9:c.45411A>G (TTN) | ENSP00000352154.5:p.Glu15137= | |
| ENST00000460472.6:c.45036A>G (TTN) | ENSP00000434586.1:p.Glu15012= | |
| ENST00000589042.5:c.72231A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu24077= | |
| ENST00000591111.5:c.67308A>G (TTN) | ENSP00000465570.1:p.Glu22436= | |
| ENST00000615779.4:c.67308A>G (TTN) | ENSP00000483597.1:p.Glu22436= | |
| NM_001256850.1:c.67308A>G (TTN) | NP_001243779.1:p.Glu22436= | |
| NM_001267550.2:c.72231A>G (TTN) MANE Select | NP_001254479.2:p.Glu24077= | |
| NM_003319.4:c.45036A>G (TTN) | NP_003310.4:p.Glu15012= | |
| NM_133378.4:c.64527A>G (TTN) | NP_596869.4:p.Glu21509= | |
| NM_133432.3:c.45411A>G (TTN) | NP_597676.3:p.Glu15137= | |
| NM_133437.4:c.45612A>G (TTN) | NP_597681.4:p.Glu15204= | |
| NR_038271.1:n.596+2452T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-8671T>C (TTN-AS1) | ||
| XM_011511729.1:c.71328A>G (TTN) | XP_011510031.1:p.Glu23776= | |
| XM_011511730.1:c.45222A>G (TTN) | XP_011510032.1:p.Glu15074= | |
| XM_011511731.1:c.45081A>G (TTN) | XP_011510033.1:p.Glu15027= | |
| XM_017004819.1:c.71124A>G (TTN) | XP_016860308.1:p.Glu23708= | |
| XM_017004820.1:c.66522A>G (TTN) | XP_016860309.1:p.Glu22174= | |
| XM_017004821.1:c.66519A>G (TTN) | XP_016860310.1:p.Glu22173= | |
| XM_017004822.1:c.63561A>G (TTN) | XP_016860311.1:p.Glu21187= | |
| XM_017004823.1:c.45177A>G (TTN) | XP_016860312.1:p.Glu15059= | |
| XM_024453094.1:c.66672A>G (TTN) | XP_024308862.1:p.Glu22224= | |
| XM_024453095.1:c.66669A>G (TTN) | XP_024308863.1:p.Glu22223= | |
| XM_024453096.1:c.66102A>G (TTN) | XP_024308864.1:p.Glu22034= | |
| XM_024453097.1:c.63444A>G (TTN) | XP_024308865.1:p.Glu21148= | |
| XM_024453098.1:c.63363A>G (TTN) | XP_024308866.1:p.Glu21121= | |
| XM_024453099.1:c.45126A>G (TTN) | XP_024308867.1:p.Glu15042= | |
| XM_024453100.1:c.34980A>G (TTN) | XP_024308868.1:p.Glu11660= |