Linked Data
ClinVar Variation Id:
47483
ClinVar RCV Id:
RCV000040752
RCV000282040
RCV000348715
RCV000352269
RCV000374104
RCV000386956
RCV000725034
RCV001170313
RCV001085079
RCV002354219
RCV004534937
dbSNP Id:
rs111727915
ExAC:
2:179419353 C / T
gnomAD v2:
2-179419353-C-T
gnomAD v3:
2-178554626-C-T
gnomAD v4:
2-178554626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554626C>T , CM000664.2:g.178554626C>T | GRCh38 |
| NC_000002.11:g.179419353C>T , CM000664.1:g.179419353C>T | GRCh37 |
| NC_000002.10:g.179127599C>T | NCBI36 |
| NG_011618.3:g.281177G>A , LRG_391:g.281177G>A | |
| NG_051363.1:g.36800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81017G>A (TTN) | ENSP00000343764.6:p.Arg27006His | |
| ENST00000342175.11:c.62102G>A (TTN) | ENSP00000340554.6:p.Arg20701His | |
| ENST00000359218.10:c.61901G>A (TTN) | ENSP00000352154.5:p.Arg20634His | |
| ENST00000342175.10:c.62102G>A (TTN) | ENSP00000340554.6:p.Arg20701His | |
| ENST00000342992.10:c.81017G>A (TTN) | ENSP00000343764.6:p.Arg27006His | |
| ENST00000359218.9:c.61901G>A (TTN) | ENSP00000352154.5:p.Arg20634His | |
| ENST00000460472.6:c.61526G>A (TTN) | ENSP00000434586.1:p.Arg20509His | |
| ENST00000589042.5:c.88721G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29574His | |
| ENST00000591111.5:c.83798G>A (TTN) | ENSP00000465570.1:p.Arg27933His | |
| ENST00000615779.4:c.83798G>A (TTN) | ENSP00000483597.1:p.Arg27933His | |
| NM_001256850.1:c.83798G>A (TTN) | NP_001243779.1:p.Arg27933His | |
| NM_001267550.2:c.88721G>A (TTN) MANE Select | NP_001254479.2:p.Arg29574His | |
| NM_003319.4:c.61526G>A (TTN) | NP_003310.4:p.Arg20509His | |
| NM_133378.4:c.81017G>A (TTN) | NP_596869.4:p.Arg27006His | |
| NM_133432.3:c.61901G>A (TTN) | NP_597676.3:p.Arg20634His | |
| NM_133437.4:c.62102G>A (TTN) | NP_597681.4:p.Arg20701His | |
| NR_038271.1:n.447-16674C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+12265C>T (TTN-AS1) | ||
| XM_011511729.1:c.87818G>A (TTN) | XP_011510031.1:p.Arg29273His | |
| XM_011511730.1:c.61712G>A (TTN) | XP_011510032.1:p.Arg20571His | |
| XM_011511731.1:c.61571G>A (TTN) | XP_011510033.1:p.Arg20524His | |
| XM_017004819.1:c.87614G>A (TTN) | XP_016860308.1:p.Arg29205His | |
| XM_017004820.1:c.83012G>A (TTN) | XP_016860309.1:p.Arg27671His | |
| XM_017004821.1:c.83009G>A (TTN) | XP_016860310.1:p.Arg27670His | |
| XM_017004822.1:c.80051G>A (TTN) | XP_016860311.1:p.Arg26684His | |
| XM_017004823.1:c.61667G>A (TTN) | XP_016860312.1:p.Arg20556His | |
| XM_024453094.1:c.83162G>A (TTN) | XP_024308862.1:p.Arg27721His | |
| XM_024453095.1:c.83159G>A (TTN) | XP_024308863.1:p.Arg27720His | |
| XM_024453096.1:c.82592G>A (TTN) | XP_024308864.1:p.Arg27531His | |
| XM_024453097.1:c.79934G>A (TTN) | XP_024308865.1:p.Arg26645His | |
| XM_024453098.1:c.79853G>A (TTN) | XP_024308866.1:p.Arg26618His | |
| XM_024453099.1:c.61616G>A (TTN) | XP_024308867.1:p.Arg20539His | |
| XM_024453100.1:c.51470G>A (TTN) | XP_024308868.1:p.Arg17157His |