Linked Data
ClinVar Variation Id:
290719
dbSNP Id:
rs727505316
ExAC:
2:179453918 G / A
gnomAD v2:
2-179453918-G-A
gnomAD v3:
2-178589191-G-A
gnomAD v4:
2-178589191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589191G>A , CM000664.2:g.178589191G>A | GRCh38 |
| NC_000002.11:g.179453918G>A , CM000664.1:g.179453918G>A | GRCh37 |
| NC_000002.10:g.179162164G>A | NCBI36 |
| NG_011618.3:g.246612C>T , LRG_391:g.246612C>T | |
| NG_051363.1:g.71365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54830C>T (TTN) | ENSP00000343764.6:p.Thr18277Met | |
| ENST00000342175.11:c.35915C>T (TTN) | ENSP00000340554.6:p.Thr11972Met | |
| ENST00000359218.10:c.35714C>T (TTN) | ENSP00000352154.5:p.Thr11905Met | |
| ENST00000342175.10:c.35915C>T (TTN) | ENSP00000340554.6:p.Thr11972Met | |
| ENST00000342992.10:c.54830C>T (TTN) | ENSP00000343764.6:p.Thr18277Met | |
| ENST00000359218.9:c.35714C>T (TTN) | ENSP00000352154.5:p.Thr11905Met | |
| ENST00000460472.6:c.35339C>T (TTN) | ENSP00000434586.1:p.Thr11780Met | |
| ENST00000589042.5:c.62534C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr20845Met | |
| ENST00000591111.5:c.57611C>T (TTN) | ENSP00000465570.1:p.Thr19204Met | |
| ENST00000615779.4:c.57611C>T (TTN) | ENSP00000483597.1:p.Thr19204Met | |
| NM_001256850.1:c.57611C>T (TTN) | NP_001243779.1:p.Thr19204Met | |
| NM_001267550.2:c.62534C>T (TTN) MANE Select | NP_001254479.2:p.Thr20845Met | |
| NM_003319.4:c.35339C>T (TTN) | NP_003310.4:p.Thr11780Met | |
| NM_133378.4:c.54830C>T (TTN) | NP_596869.4:p.Thr18277Met | |
| NM_133432.3:c.35714C>T (TTN) | NP_597676.3:p.Thr11905Met | |
| NM_133437.4:c.35915C>T (TTN) | NP_597681.4:p.Thr11972Met | |
| NR_038271.1:n.597-8405G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1948G>A (TTN-AS1) | ||
| XM_011511729.1:c.61631C>T (TTN) | XP_011510031.1:p.Thr20544Met | |
| XM_011511730.1:c.35525C>T (TTN) | XP_011510032.1:p.Thr11842Met | |
| XM_011511731.1:c.35384C>T (TTN) | XP_011510033.1:p.Thr11795Met | |
| XM_017004819.1:c.61427C>T (TTN) | XP_016860308.1:p.Thr20476Met | |
| XM_017004820.1:c.56825C>T (TTN) | XP_016860309.1:p.Thr18942Met | |
| XM_017004821.1:c.56822C>T (TTN) | XP_016860310.1:p.Thr18941Met | |
| XM_017004822.1:c.53864C>T (TTN) | XP_016860311.1:p.Thr17955Met | |
| XM_017004823.1:c.35480C>T (TTN) | XP_016860312.1:p.Thr11827Met | |
| XM_024453094.1:c.56975C>T (TTN) | XP_024308862.1:p.Thr18992Met | |
| XM_024453095.1:c.56972C>T (TTN) | XP_024308863.1:p.Thr18991Met | |
| XM_024453096.1:c.56405C>T (TTN) | XP_024308864.1:p.Thr18802Met | |
| XM_024453097.1:c.53747C>T (TTN) | XP_024308865.1:p.Thr17916Met | |
| XM_024453098.1:c.53666C>T (TTN) | XP_024308866.1:p.Thr17889Met | |
| XM_024453099.1:c.35429C>T (TTN) | XP_024308867.1:p.Thr11810Met | |
| XM_024453100.1:c.25283C>T (TTN) | XP_024308868.1:p.Thr8428Met |