Linked Data
ClinVar Variation Id:
178182
ClinVar RCV Id:
RCV000154909
RCV000472564
RCV000769915
RCV000617218
RCV001134828
RCV001134829
RCV001133355
RCV001134826
RCV001134827
RCV001528765
RCV004544421
dbSNP Id:
rs187270666
ExAC:
2:179425966 C / T
gnomAD v2:
2-179425966-C-T
gnomAD v3:
2-178561239-C-T
gnomAD v4:
2-178561239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561239C>T , CM000664.2:g.178561239C>T | GRCh38 |
| NC_000002.11:g.179425966C>T , CM000664.1:g.179425966C>T | GRCh37 |
| NC_000002.10:g.179134212C>T | NCBI36 |
| NG_011618.3:g.274564G>A , LRG_391:g.274564G>A | |
| NG_051363.1:g.43413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77189G>A (TTN) | ENSP00000343764.6:p.Arg25730Gln | |
| ENST00000342175.11:c.58274G>A (TTN) | ENSP00000340554.6:p.Arg19425Gln | |
| ENST00000359218.10:c.58073G>A (TTN) | ENSP00000352154.5:p.Arg19358Gln | |
| ENST00000342175.10:c.58274G>A (TTN) | ENSP00000340554.6:p.Arg19425Gln | |
| ENST00000342992.10:c.77189G>A (TTN) | ENSP00000343764.6:p.Arg25730Gln | |
| ENST00000359218.9:c.58073G>A (TTN) | ENSP00000352154.5:p.Arg19358Gln | |
| ENST00000460472.6:c.57698G>A (TTN) | ENSP00000434586.1:p.Arg19233Gln | |
| ENST00000589042.5:c.84893G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28298Gln | |
| ENST00000591111.5:c.79970G>A (TTN) | ENSP00000465570.1:p.Arg26657Gln | |
| ENST00000615779.4:c.79970G>A (TTN) | ENSP00000483597.1:p.Arg26657Gln | |
| NM_001256850.1:c.79970G>A (TTN) | NP_001243779.1:p.Arg26657Gln | |
| NM_001267550.2:c.84893G>A (TTN) MANE Select | NP_001254479.2:p.Arg28298Gln | |
| NM_003319.4:c.57698G>A (TTN) | NP_003310.4:p.Arg19233Gln | |
| NM_133378.4:c.77189G>A (TTN) | NP_596869.4:p.Arg25730Gln | |
| NM_133432.3:c.58073G>A (TTN) | NP_597676.3:p.Arg19358Gln | |
| NM_133437.4:c.58274G>A (TTN) | NP_597681.4:p.Arg19425Gln | |
| NR_038271.1:n.447-10061C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18878C>T (TTN-AS1) | ||
| XM_011511729.1:c.83990G>A (TTN) | XP_011510031.1:p.Arg27997Gln | |
| XM_011511730.1:c.57884G>A (TTN) | XP_011510032.1:p.Arg19295Gln | |
| XM_011511731.1:c.57743G>A (TTN) | XP_011510033.1:p.Arg19248Gln | |
| XM_017004819.1:c.83786G>A (TTN) | XP_016860308.1:p.Arg27929Gln | |
| XM_017004820.1:c.79184G>A (TTN) | XP_016860309.1:p.Arg26395Gln | |
| XM_017004821.1:c.79181G>A (TTN) | XP_016860310.1:p.Arg26394Gln | |
| XM_017004822.1:c.76223G>A (TTN) | XP_016860311.1:p.Arg25408Gln | |
| XM_017004823.1:c.57839G>A (TTN) | XP_016860312.1:p.Arg19280Gln | |
| XM_024453094.1:c.79334G>A (TTN) | XP_024308862.1:p.Arg26445Gln | |
| XM_024453095.1:c.79331G>A (TTN) | XP_024308863.1:p.Arg26444Gln | |
| XM_024453096.1:c.78764G>A (TTN) | XP_024308864.1:p.Arg26255Gln | |
| XM_024453097.1:c.76106G>A (TTN) | XP_024308865.1:p.Arg25369Gln | |
| XM_024453098.1:c.76025G>A (TTN) | XP_024308866.1:p.Arg25342Gln | |
| XM_024453099.1:c.57788G>A (TTN) | XP_024308867.1:p.Arg19263Gln | |
| XM_024453100.1:c.47642G>A (TTN) | XP_024308868.1:p.Arg15881Gln |