Linked Data
ClinVar Variation Id:
225104
ClinVar RCV Id:
RCV000210543
RCV000518156
RCV001135066
RCV001130044
RCV001130041
RCV001130043
RCV001130042
RCV001571070
RCV002399774
dbSNP Id:
rs373709706
ExAC:
2:179396820 C / T
gnomAD v2:
2-179396820-C-T
gnomAD v3:
2-178532093-C-T
gnomAD v4:
2-178532093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532093C>T , CM000664.2:g.178532093C>T | GRCh38 |
| NC_000002.11:g.179396820C>T , CM000664.1:g.179396820C>T | GRCh37 |
| NC_000002.10:g.179105066C>T | NCBI36 |
| NG_011618.3:g.303710G>A , LRG_391:g.303710G>A | |
| NG_051363.1:g.14267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96818G>A (TTN) | ENSP00000343764.6:p.Arg32273His | |
| ENST00000342175.11:c.77903G>A (TTN) | ENSP00000340554.6:p.Arg25968His | |
| ENST00000359218.10:c.77702G>A (TTN) | ENSP00000352154.5:p.Arg25901His | |
| ENST00000342175.10:c.77903G>A (TTN) | ENSP00000340554.6:p.Arg25968His | |
| ENST00000342992.10:c.96818G>A (TTN) | ENSP00000343764.6:p.Arg32273His | |
| ENST00000359218.9:c.77702G>A (TTN) | ENSP00000352154.5:p.Arg25901His | |
| ENST00000460472.6:c.77327G>A (TTN) | ENSP00000434586.1:p.Arg25776His | |
| ENST00000589042.5:c.104522G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34841His | |
| ENST00000591111.5:c.99599G>A (TTN) | ENSP00000465570.1:p.Arg33200His | |
| ENST00000615779.4:c.99599G>A (TTN) | ENSP00000483597.1:p.Arg33200His | |
| NM_001256850.1:c.99599G>A (TTN) | NP_001243779.1:p.Arg33200His | |
| NM_001267550.2:c.104522G>A (TTN) MANE Select | NP_001254479.2:p.Arg34841His | |
| NM_003319.4:c.77327G>A (TTN) | NP_003310.4:p.Arg25776His | |
| NM_133378.4:c.96818G>A (TTN) | NP_596869.4:p.Arg32273His | |
| NM_133432.3:c.77702G>A (TTN) | NP_597676.3:p.Arg25901His | |
| NM_133437.4:c.77903G>A (TTN) | NP_597681.4:p.Arg25968His | |
| NR_038271.1:n.446+8457C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3639C>T (TTN-AS1) | ||
| XM_011511729.1:c.103619G>A (TTN) | XP_011510031.1:p.Arg34540His | |
| XM_011511730.1:c.77513G>A (TTN) | XP_011510032.1:p.Arg25838His | |
| XM_011511731.1:c.77372G>A (TTN) | XP_011510033.1:p.Arg25791His | |
| XM_017004819.1:c.103415G>A (TTN) | XP_016860308.1:p.Arg34472His | |
| XM_017004820.1:c.98813G>A (TTN) | XP_016860309.1:p.Arg32938His | |
| XM_017004821.1:c.98810G>A (TTN) | XP_016860310.1:p.Arg32937His | |
| XM_017004822.1:c.95852G>A (TTN) | XP_016860311.1:p.Arg31951His | |
| XM_017004823.1:c.77468G>A (TTN) | XP_016860312.1:p.Arg25823His | |
| XM_024453094.1:c.98963G>A (TTN) | XP_024308862.1:p.Arg32988His | |
| XM_024453095.1:c.98960G>A (TTN) | XP_024308863.1:p.Arg32987His | |
| XM_024453096.1:c.98393G>A (TTN) | XP_024308864.1:p.Arg32798His | |
| XM_024453097.1:c.95735G>A (TTN) | XP_024308865.1:p.Arg31912His | |
| XM_024453098.1:c.95654G>A (TTN) | XP_024308866.1:p.Arg31885His | |
| XM_024453099.1:c.77417G>A (TTN) | XP_024308867.1:p.Arg25806His | |
| XM_024453100.1:c.67271G>A (TTN) | XP_024308868.1:p.Arg22424His |