Linked Data
ClinVar Variation Id:
229549
ClinVar RCV Id:
RCV000221381
RCV000307260
RCV000348077
RCV000393913
RCV000367679
RCV000312975
RCV000465608
RCV000620724
RCV000728761
RCV003486777
dbSNP Id:
rs374063064
ExAC:
2:179408698 C / T
gnomAD v2:
2-179408698-C-T
gnomAD v3:
2-178543971-C-T
gnomAD v4:
2-178543971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543971C>T , CM000664.2:g.178543971C>T | GRCh38 |
| NC_000002.11:g.179408698C>T , CM000664.1:g.179408698C>T | GRCh37 |
| NC_000002.10:g.179116944C>T | NCBI36 |
| NG_011618.3:g.291832G>A , LRG_391:g.291832G>A | |
| NG_051363.1:g.26145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88469G>A (TTN) | ENSP00000343764.6:p.Arg29490Gln | |
| ENST00000342175.11:c.69554G>A (TTN) | ENSP00000340554.6:p.Arg23185Gln | |
| ENST00000359218.10:c.69353G>A (TTN) | ENSP00000352154.5:p.Arg23118Gln | |
| ENST00000342175.10:c.69554G>A (TTN) | ENSP00000340554.6:p.Arg23185Gln | |
| ENST00000342992.10:c.88469G>A (TTN) | ENSP00000343764.6:p.Arg29490Gln | |
| ENST00000359218.9:c.69353G>A (TTN) | ENSP00000352154.5:p.Arg23118Gln | |
| ENST00000460472.6:c.68978G>A (TTN) | ENSP00000434586.1:p.Arg22993Gln | |
| ENST00000589042.5:c.96173G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32058Gln | |
| ENST00000591111.5:c.91250G>A (TTN) | ENSP00000465570.1:p.Arg30417Gln | |
| ENST00000615779.4:c.91250G>A (TTN) | ENSP00000483597.1:p.Arg30417Gln | |
| NM_001256850.1:c.91250G>A (TTN) | NP_001243779.1:p.Arg30417Gln | |
| NM_001267550.2:c.96173G>A (TTN) MANE Select | NP_001254479.2:p.Arg32058Gln | |
| NM_003319.4:c.68978G>A (TTN) | NP_003310.4:p.Arg22993Gln | |
| NM_133378.4:c.88469G>A (TTN) | NP_596869.4:p.Arg29490Gln | |
| NM_133432.3:c.69353G>A (TTN) | NP_597676.3:p.Arg23118Gln | |
| NM_133437.4:c.69554G>A (TTN) | NP_597681.4:p.Arg23185Gln | |
| NR_038271.1:n.446+20335C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1610C>T (TTN-AS1) | ||
| XM_011511729.1:c.95270G>A (TTN) | XP_011510031.1:p.Arg31757Gln | |
| XM_011511730.1:c.69164G>A (TTN) | XP_011510032.1:p.Arg23055Gln | |
| XM_011511731.1:c.69023G>A (TTN) | XP_011510033.1:p.Arg23008Gln | |
| XM_017004819.1:c.95066G>A (TTN) | XP_016860308.1:p.Arg31689Gln | |
| XM_017004820.1:c.90464G>A (TTN) | XP_016860309.1:p.Arg30155Gln | |
| XM_017004821.1:c.90461G>A (TTN) | XP_016860310.1:p.Arg30154Gln | |
| XM_017004822.1:c.87503G>A (TTN) | XP_016860311.1:p.Arg29168Gln | |
| XM_017004823.1:c.69119G>A (TTN) | XP_016860312.1:p.Arg23040Gln | |
| XM_024453094.1:c.90614G>A (TTN) | XP_024308862.1:p.Arg30205Gln | |
| XM_024453095.1:c.90611G>A (TTN) | XP_024308863.1:p.Arg30204Gln | |
| XM_024453096.1:c.90044G>A (TTN) | XP_024308864.1:p.Arg30015Gln | |
| XM_024453097.1:c.87386G>A (TTN) | XP_024308865.1:p.Arg29129Gln | |
| XM_024453098.1:c.87305G>A (TTN) | XP_024308866.1:p.Arg29102Gln | |
| XM_024453099.1:c.69068G>A (TTN) | XP_024308867.1:p.Arg23023Gln | |
| XM_024453100.1:c.58922G>A (TTN) | XP_024308868.1:p.Arg19641Gln |