Linked Data
ClinVar Variation Id:
290707
dbSNP Id:
rs750519430
ExAC:
2:179396929 G / A
gnomAD v2:
2-179396929-G-A
gnomAD v4:
2-178532202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532202G>A , CM000664.2:g.178532202G>A | GRCh38 |
| NC_000002.11:g.179396929G>A , CM000664.1:g.179396929G>A | GRCh37 |
| NC_000002.10:g.179105175G>A | NCBI36 |
| NG_011618.3:g.303601C>T , LRG_391:g.303601C>T | |
| NG_051363.1:g.14376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96709C>T (TTN) | ENSP00000343764.6:p.Arg32237Ter | |
| ENST00000342175.11:c.77794C>T (TTN) | ENSP00000340554.6:p.Arg25932Ter | |
| ENST00000359218.10:c.77593C>T (TTN) | ENSP00000352154.5:p.Arg25865Ter | |
| ENST00000342175.10:c.77794C>T (TTN) | ENSP00000340554.6:p.Arg25932Ter | |
| ENST00000342992.10:c.96709C>T (TTN) | ENSP00000343764.6:p.Arg32237Ter | |
| ENST00000359218.9:c.77593C>T (TTN) | ENSP00000352154.5:p.Arg25865Ter | |
| ENST00000460472.6:c.77218C>T (TTN) | ENSP00000434586.1:p.Arg25740Ter | |
| ENST00000589042.5:c.104413C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34805Ter | |
| ENST00000591111.5:c.99490C>T (TTN) | ENSP00000465570.1:p.Arg33164Ter | |
| ENST00000615779.4:c.99490C>T (TTN) | ENSP00000483597.1:p.Arg33164Ter | |
| NM_001256850.1:c.99490C>T (TTN) | NP_001243779.1:p.Arg33164Ter | |
| NM_001267550.2:c.104413C>T (TTN) MANE Select | NP_001254479.2:p.Arg34805Ter | |
| NM_003319.4:c.77218C>T (TTN) | NP_003310.4:p.Arg25740Ter | |
| NM_133378.4:c.96709C>T (TTN) | NP_596869.4:p.Arg32237Ter | |
| NM_133432.3:c.77593C>T (TTN) | NP_597676.3:p.Arg25865Ter | |
| NM_133437.4:c.77794C>T (TTN) | NP_597681.4:p.Arg25932Ter | |
| NR_038271.1:n.446+8566G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3530G>A (TTN-AS1) | ||
| XM_011511729.1:c.103510C>T (TTN) | XP_011510031.1:p.Arg34504Ter | |
| XM_011511730.1:c.77404C>T (TTN) | XP_011510032.1:p.Arg25802Ter | |
| XM_011511731.1:c.77263C>T (TTN) | XP_011510033.1:p.Arg25755Ter | |
| XM_017004819.1:c.103306C>T (TTN) | XP_016860308.1:p.Arg34436Ter | |
| XM_017004820.1:c.98704C>T (TTN) | XP_016860309.1:p.Arg32902Ter | |
| XM_017004821.1:c.98701C>T (TTN) | XP_016860310.1:p.Arg32901Ter | |
| XM_017004822.1:c.95743C>T (TTN) | XP_016860311.1:p.Arg31915Ter | |
| XM_017004823.1:c.77359C>T (TTN) | XP_016860312.1:p.Arg25787Ter | |
| XM_024453094.1:c.98854C>T (TTN) | XP_024308862.1:p.Arg32952Ter | |
| XM_024453095.1:c.98851C>T (TTN) | XP_024308863.1:p.Arg32951Ter | |
| XM_024453096.1:c.98284C>T (TTN) | XP_024308864.1:p.Arg32762Ter | |
| XM_024453097.1:c.95626C>T (TTN) | XP_024308865.1:p.Arg31876Ter | |
| XM_024453098.1:c.95545C>T (TTN) | XP_024308866.1:p.Arg31849Ter | |
| XM_024453099.1:c.77308C>T (TTN) | XP_024308867.1:p.Arg25770Ter | |
| XM_024453100.1:c.67162C>T (TTN) | XP_024308868.1:p.Arg22388Ter |