Linked Data
ClinVar Variation Id:
467233
dbSNP Id:
rs377342233
ExAC:
2:179475004 G / T
gnomAD v2:
2-179475004-G-T
gnomAD v3:
2-178610277-G-T
gnomAD v4:
2-178610277-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610277G>T , CM000664.2:g.178610277G>T | GRCh38 |
| NC_000002.11:g.179475004G>T , CM000664.1:g.179475004G>T | GRCh37 |
| NC_000002.10:g.179183249G>T | NCBI36 |
| NG_011618.3:g.225526C>A , LRG_391:g.225526C>A | |
| NG_051363.1:g.92451G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43545C>A (TTN) | ENSP00000343764.6:p.Val14515= | |
| ENST00000342175.11:c.24630C>A (TTN) | ENSP00000340554.6:p.Val8210= | |
| ENST00000359218.10:c.24429C>A (TTN) | ENSP00000352154.5:p.Val8143= | |
| ENST00000342175.10:c.24630C>A (TTN) | ENSP00000340554.6:p.Val8210= | |
| ENST00000342992.10:c.43545C>A (TTN) | ENSP00000343764.6:p.Val14515= | |
| ENST00000359218.9:c.24429C>A (TTN) | ENSP00000352154.5:p.Val8143= | |
| ENST00000460472.6:c.24054C>A (TTN) | ENSP00000434586.1:p.Val8018= | |
| ENST00000589042.5:c.51249C>A (TTN) MANE Select | ENSP00000467141.1:p.Val17083= | |
| ENST00000591111.5:c.46326C>A (TTN) | ENSP00000465570.1:p.Val15442= | |
| ENST00000615779.4:c.46326C>A (TTN) | ENSP00000483597.1:p.Val15442= | |
| NM_001256850.1:c.46326C>A (TTN) | NP_001243779.1:p.Val15442= | |
| NM_001267550.2:c.51249C>A (TTN) MANE Select | NP_001254479.2:p.Val17083= | |
| NM_003319.4:c.24054C>A (TTN) | NP_003310.4:p.Val8018= | |
| NM_133378.4:c.43545C>A (TTN) | NP_596869.4:p.Val14515= | |
| NM_133432.3:c.24429C>A (TTN) | NP_597676.3:p.Val8143= | |
| NM_133437.4:c.24630C>A (TTN) | NP_597681.4:p.Val8210= | |
| NR_038271.1:n.782+2011G>T (TTN-AS1) | ||
| XM_011511729.1:c.50346C>A (TTN) | XP_011510031.1:p.Val16782= | |
| XM_011511730.1:c.24240C>A (TTN) | XP_011510032.1:p.Val8080= | |
| XM_011511731.1:c.24099C>A (TTN) | XP_011510033.1:p.Val8033= | |
| XM_017004819.1:c.50142C>A (TTN) | XP_016860308.1:p.Val16714= | |
| XM_017004820.1:c.45540C>A (TTN) | XP_016860309.1:p.Val15180= | |
| XM_017004821.1:c.45537C>A (TTN) | XP_016860310.1:p.Val15179= | |
| XM_017004822.1:c.42579C>A (TTN) | XP_016860311.1:p.Val14193= | |
| XM_017004823.1:c.24195C>A (TTN) | XP_016860312.1:p.Val8065= | |
| XM_024453094.1:c.45690C>A (TTN) | XP_024308862.1:p.Val15230= | |
| XM_024453095.1:c.45687C>A (TTN) | XP_024308863.1:p.Val15229= | |
| XM_024453096.1:c.45120C>A (TTN) | XP_024308864.1:p.Val15040= | |
| XM_024453097.1:c.42462C>A (TTN) | XP_024308865.1:p.Val14154= | |
| XM_024453098.1:c.42381C>A (TTN) | XP_024308866.1:p.Val14127= | |
| XM_024453099.1:c.24144C>A (TTN) | XP_024308867.1:p.Val8048= | |
| XM_024453100.1:c.13998C>A (TTN) | XP_024308868.1:p.Val4666= |