Linked Data
ClinVar Variation Id:
165947
dbSNP Id:
rs373527448
ExAC:
2:179458930 G / A
gnomAD v2:
2-179458930-G-A
gnomAD v3:
2-178594203-G-A
gnomAD v4:
2-178594203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594203G>A , CM000664.2:g.178594203G>A | GRCh38 |
| NC_000002.11:g.179458930G>A , CM000664.1:g.179458930G>A | GRCh37 |
| NC_000002.10:g.179167176G>A | NCBI36 |
| NG_011618.3:g.241600C>T , LRG_391:g.241600C>T | |
| NG_051363.1:g.76377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50486C>T (TTN) | ENSP00000343764.6:p.Thr16829Met | |
| ENST00000342175.11:c.31571C>T (TTN) | ENSP00000340554.6:p.Thr10524Met | |
| ENST00000359218.10:c.31370C>T (TTN) | ENSP00000352154.5:p.Thr10457Met | |
| ENST00000342175.10:c.31571C>T (TTN) | ENSP00000340554.6:p.Thr10524Met | |
| ENST00000342992.10:c.50486C>T (TTN) | ENSP00000343764.6:p.Thr16829Met | |
| ENST00000359218.9:c.31370C>T (TTN) | ENSP00000352154.5:p.Thr10457Met | |
| ENST00000460472.6:c.30995C>T (TTN) | ENSP00000434586.1:p.Thr10332Met | |
| ENST00000589042.5:c.58190C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr19397Met | |
| ENST00000591111.5:c.53267C>T (TTN) | ENSP00000465570.1:p.Thr17756Met | |
| ENST00000615779.4:c.53267C>T (TTN) | ENSP00000483597.1:p.Thr17756Met | |
| NM_001256850.1:c.53267C>T (TTN) | NP_001243779.1:p.Thr17756Met | |
| NM_001267550.2:c.58190C>T (TTN) MANE Select | NP_001254479.2:p.Thr19397Met | |
| NM_003319.4:c.30995C>T (TTN) | NP_003310.4:p.Thr10332Met | |
| NM_133378.4:c.50486C>T (TTN) | NP_596869.4:p.Thr16829Met | |
| NM_133432.3:c.31370C>T (TTN) | NP_597676.3:p.Thr10457Met | |
| NM_133437.4:c.31571C>T (TTN) | NP_597681.4:p.Thr10524Met | |
| NR_038271.1:n.597-3393G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+2889G>A (TTN-AS1) | ||
| XM_011511729.1:c.57287C>T (TTN) | XP_011510031.1:p.Thr19096Met | |
| XM_011511730.1:c.31181C>T (TTN) | XP_011510032.1:p.Thr10394Met | |
| XM_011511731.1:c.31040C>T (TTN) | XP_011510033.1:p.Thr10347Met | |
| XM_017004819.1:c.57083C>T (TTN) | XP_016860308.1:p.Thr19028Met | |
| XM_017004820.1:c.52481C>T (TTN) | XP_016860309.1:p.Thr17494Met | |
| XM_017004821.1:c.52478C>T (TTN) | XP_016860310.1:p.Thr17493Met | |
| XM_017004822.1:c.49520C>T (TTN) | XP_016860311.1:p.Thr16507Met | |
| XM_017004823.1:c.31136C>T (TTN) | XP_016860312.1:p.Thr10379Met | |
| XM_024453094.1:c.52631C>T (TTN) | XP_024308862.1:p.Thr17544Met | |
| XM_024453095.1:c.52628C>T (TTN) | XP_024308863.1:p.Thr17543Met | |
| XM_024453096.1:c.52061C>T (TTN) | XP_024308864.1:p.Thr17354Met | |
| XM_024453097.1:c.49403C>T (TTN) | XP_024308865.1:p.Thr16468Met | |
| XM_024453098.1:c.49322C>T (TTN) | XP_024308866.1:p.Thr16441Met | |
| XM_024453099.1:c.31085C>T (TTN) | XP_024308867.1:p.Thr10362Met | |
| XM_024453100.1:c.20939C>T (TTN) | XP_024308868.1:p.Thr6980Met |