Linked Data
ClinVar Variation Id:
535728
dbSNP Id:
rs1215674180
gnomAD v2:
2-179456354-A-G
gnomAD v4:
2-178591627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591627A>G , CM000664.2:g.178591627A>G | GRCh38 |
| NC_000002.11:g.179456354A>G , CM000664.1:g.179456354A>G | GRCh37 |
| NC_000002.10:g.179164600A>G | NCBI36 |
| NG_011618.3:g.244176T>C , LRG_391:g.244176T>C | |
| NG_051363.1:g.73801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52488T>C (TTN) | ENSP00000343764.6:p.Thr17496= | |
| ENST00000342175.11:c.33573T>C (TTN) | ENSP00000340554.6:p.Thr11191= | |
| ENST00000359218.10:c.33372T>C (TTN) | ENSP00000352154.5:p.Thr11124= | |
| ENST00000342175.10:c.33573T>C (TTN) | ENSP00000340554.6:p.Thr11191= | |
| ENST00000342992.10:c.52488T>C (TTN) | ENSP00000343764.6:p.Thr17496= | |
| ENST00000359218.9:c.33372T>C (TTN) | ENSP00000352154.5:p.Thr11124= | |
| ENST00000460472.6:c.32997T>C (TTN) | ENSP00000434586.1:p.Thr10999= | |
| ENST00000589042.5:c.60192T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr20064= | |
| ENST00000591111.5:c.55269T>C (TTN) | ENSP00000465570.1:p.Thr18423= | |
| ENST00000615779.4:c.55269T>C (TTN) | ENSP00000483597.1:p.Thr18423= | |
| NM_001256850.1:c.55269T>C (TTN) | NP_001243779.1:p.Thr18423= | |
| NM_001267550.2:c.60192T>C (TTN) MANE Select | NP_001254479.2:p.Thr20064= | |
| NM_003319.4:c.32997T>C (TTN) | NP_003310.4:p.Thr10999= | |
| NM_133378.4:c.52488T>C (TTN) | NP_596869.4:p.Thr17496= | |
| NM_133432.3:c.33372T>C (TTN) | NP_597676.3:p.Thr11124= | |
| NM_133437.4:c.33573T>C (TTN) | NP_597681.4:p.Thr11191= | |
| NR_038271.1:n.597-5969A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+313A>G (TTN-AS1) | ||
| XM_011511729.1:c.59289T>C (TTN) | XP_011510031.1:p.Thr19763= | |
| XM_011511730.1:c.33183T>C (TTN) | XP_011510032.1:p.Thr11061= | |
| XM_011511731.1:c.33042T>C (TTN) | XP_011510033.1:p.Thr11014= | |
| XM_017004819.1:c.59085T>C (TTN) | XP_016860308.1:p.Thr19695= | |
| XM_017004820.1:c.54483T>C (TTN) | XP_016860309.1:p.Thr18161= | |
| XM_017004821.1:c.54480T>C (TTN) | XP_016860310.1:p.Thr18160= | |
| XM_017004822.1:c.51522T>C (TTN) | XP_016860311.1:p.Thr17174= | |
| XM_017004823.1:c.33138T>C (TTN) | XP_016860312.1:p.Thr11046= | |
| XM_024453094.1:c.54633T>C (TTN) | XP_024308862.1:p.Thr18211= | |
| XM_024453095.1:c.54630T>C (TTN) | XP_024308863.1:p.Thr18210= | |
| XM_024453096.1:c.54063T>C (TTN) | XP_024308864.1:p.Thr18021= | |
| XM_024453097.1:c.51405T>C (TTN) | XP_024308865.1:p.Thr17135= | |
| XM_024453098.1:c.51324T>C (TTN) | XP_024308866.1:p.Thr17108= | |
| XM_024453099.1:c.33087T>C (TTN) | XP_024308867.1:p.Thr11029= | |
| XM_024453100.1:c.22941T>C (TTN) | XP_024308868.1:p.Thr7647= |