Linked Data
ClinVar Variation Id:
332704
ClinVar RCV Id:
RCV000273760
RCV000296140
RCV000344102
RCV000375299
RCV000331164
RCV000594505
RCV000621517
RCV003226282
dbSNP Id:
rs775769503
ExAC:
2:179401870 C / A
gnomAD v2:
2-179401870-C-A
gnomAD v3:
2-178537143-C-A
gnomAD v4:
2-178537143-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537143C>A , CM000664.2:g.178537143C>A | GRCh38 |
| NC_000002.11:g.179401870C>A , CM000664.1:g.179401870C>A | GRCh37 |
| NC_000002.10:g.179110116C>A | NCBI36 |
| NG_011618.3:g.298660G>T , LRG_391:g.298660G>T | |
| NG_051363.1:g.19317C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92262G>T (TTN) | ENSP00000343764.6:p.Trp30754Cys | |
| ENST00000342175.11:c.73347G>T (TTN) | ENSP00000340554.6:p.Trp24449Cys | |
| ENST00000359218.10:c.73146G>T (TTN) | ENSP00000352154.5:p.Trp24382Cys | |
| ENST00000342175.10:c.73347G>T (TTN) | ENSP00000340554.6:p.Trp24449Cys | |
| ENST00000342992.10:c.92262G>T (TTN) | ENSP00000343764.6:p.Trp30754Cys | |
| ENST00000359218.9:c.73146G>T (TTN) | ENSP00000352154.5:p.Trp24382Cys | |
| ENST00000460472.6:c.72771G>T (TTN) | ENSP00000434586.1:p.Trp24257Cys | |
| ENST00000589042.5:c.99966G>T (TTN) MANE Select | ENSP00000467141.1:p.Trp33322Cys | |
| ENST00000591111.5:c.95043G>T (TTN) | ENSP00000465570.1:p.Trp31681Cys | |
| ENST00000615779.4:c.95043G>T (TTN) | ENSP00000483597.1:p.Trp31681Cys | |
| NM_001256850.1:c.95043G>T (TTN) | NP_001243779.1:p.Trp31681Cys | |
| NM_001267550.2:c.99966G>T (TTN) MANE Select | NP_001254479.2:p.Trp33322Cys | |
| NM_003319.4:c.72771G>T (TTN) | NP_003310.4:p.Trp24257Cys | |
| NM_133378.4:c.92262G>T (TTN) | NP_596869.4:p.Trp30754Cys | |
| NM_133432.3:c.73146G>T (TTN) | NP_597676.3:p.Trp24382Cys | |
| NM_133437.4:c.73347G>T (TTN) | NP_597681.4:p.Trp24449Cys | |
| NR_038271.1:n.446+13507C>A (TTN-AS1) | ||
| NR_038272.1:n.317-218C>A (TTN-AS1) | ||
| XM_011511729.1:c.99063G>T (TTN) | XP_011510031.1:p.Trp33021Cys | |
| XM_011511730.1:c.72957G>T (TTN) | XP_011510032.1:p.Trp24319Cys | |
| XM_011511731.1:c.72816G>T (TTN) | XP_011510033.1:p.Trp24272Cys | |
| XM_017004819.1:c.98859G>T (TTN) | XP_016860308.1:p.Trp32953Cys | |
| XM_017004820.1:c.94257G>T (TTN) | XP_016860309.1:p.Trp31419Cys | |
| XM_017004821.1:c.94254G>T (TTN) | XP_016860310.1:p.Trp31418Cys | |
| XM_017004822.1:c.91296G>T (TTN) | XP_016860311.1:p.Trp30432Cys | |
| XM_017004823.1:c.72912G>T (TTN) | XP_016860312.1:p.Trp24304Cys | |
| XM_024453094.1:c.94407G>T (TTN) | XP_024308862.1:p.Trp31469Cys | |
| XM_024453095.1:c.94404G>T (TTN) | XP_024308863.1:p.Trp31468Cys | |
| XM_024453096.1:c.93837G>T (TTN) | XP_024308864.1:p.Trp31279Cys | |
| XM_024453097.1:c.91179G>T (TTN) | XP_024308865.1:p.Trp30393Cys | |
| XM_024453098.1:c.91098G>T (TTN) | XP_024308866.1:p.Trp30366Cys | |
| XM_024453099.1:c.72861G>T (TTN) | XP_024308867.1:p.Trp24287Cys | |
| XM_024453100.1:c.62715G>T (TTN) | XP_024308868.1:p.Trp20905Cys |