Linked Data
ClinVar Variation Id:
502205
dbSNP Id:
rs140879454
ExAC:
2:179427508 G / A
gnomAD v2:
2-179427508-G-A
gnomAD v3:
2-178562781-G-A
gnomAD v4:
2-178562781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562781G>A , CM000664.2:g.178562781G>A | GRCh38 |
| NC_000002.11:g.179427508G>A , CM000664.1:g.179427508G>A | GRCh37 |
| NC_000002.10:g.179135754G>A | NCBI36 |
| NG_011618.3:g.273022C>T , LRG_391:g.273022C>T | |
| NG_051363.1:g.44955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75647C>T (TTN) | ENSP00000343764.6:p.Thr25216Met | |
| ENST00000342175.11:c.56732C>T (TTN) | ENSP00000340554.6:p.Thr18911Met | |
| ENST00000359218.10:c.56531C>T (TTN) | ENSP00000352154.5:p.Thr18844Met | |
| ENST00000342175.10:c.56732C>T (TTN) | ENSP00000340554.6:p.Thr18911Met | |
| ENST00000342992.10:c.75647C>T (TTN) | ENSP00000343764.6:p.Thr25216Met | |
| ENST00000359218.9:c.56531C>T (TTN) | ENSP00000352154.5:p.Thr18844Met | |
| ENST00000460472.6:c.56156C>T (TTN) | ENSP00000434586.1:p.Thr18719Met | |
| ENST00000589042.5:c.83351C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr27784Met | |
| ENST00000591111.5:c.78428C>T (TTN) | ENSP00000465570.1:p.Thr26143Met | |
| ENST00000615779.4:c.78428C>T (TTN) | ENSP00000483597.1:p.Thr26143Met | |
| NM_001256850.1:c.78428C>T (TTN) | NP_001243779.1:p.Thr26143Met | |
| NM_001267550.2:c.83351C>T (TTN) MANE Select | NP_001254479.2:p.Thr27784Met | |
| NM_003319.4:c.56156C>T (TTN) | NP_003310.4:p.Thr18719Met | |
| NM_133378.4:c.75647C>T (TTN) | NP_596869.4:p.Thr25216Met | |
| NM_133432.3:c.56531C>T (TTN) | NP_597676.3:p.Thr18844Met | |
| NM_133437.4:c.56732C>T (TTN) | NP_597681.4:p.Thr18911Met | |
| NR_038271.1:n.447-8519G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19791G>A (TTN-AS1) | ||
| XM_011511729.1:c.82448C>T (TTN) | XP_011510031.1:p.Thr27483Met | |
| XM_011511730.1:c.56342C>T (TTN) | XP_011510032.1:p.Thr18781Met | |
| XM_011511731.1:c.56201C>T (TTN) | XP_011510033.1:p.Thr18734Met | |
| XM_017004819.1:c.82244C>T (TTN) | XP_016860308.1:p.Thr27415Met | |
| XM_017004820.1:c.77642C>T (TTN) | XP_016860309.1:p.Thr25881Met | |
| XM_017004821.1:c.77639C>T (TTN) | XP_016860310.1:p.Thr25880Met | |
| XM_017004822.1:c.74681C>T (TTN) | XP_016860311.1:p.Thr24894Met | |
| XM_017004823.1:c.56297C>T (TTN) | XP_016860312.1:p.Thr18766Met | |
| XM_024453094.1:c.77792C>T (TTN) | XP_024308862.1:p.Thr25931Met | |
| XM_024453095.1:c.77789C>T (TTN) | XP_024308863.1:p.Thr25930Met | |
| XM_024453096.1:c.77222C>T (TTN) | XP_024308864.1:p.Thr25741Met | |
| XM_024453097.1:c.74564C>T (TTN) | XP_024308865.1:p.Thr24855Met | |
| XM_024453098.1:c.74483C>T (TTN) | XP_024308866.1:p.Thr24828Met | |
| XM_024453099.1:c.56246C>T (TTN) | XP_024308867.1:p.Thr18749Met | |
| XM_024453100.1:c.46100C>T (TTN) | XP_024308868.1:p.Thr15367Met |