Linked Data
ClinVar Variation Id:
263494
ClinVar RCV Id:
RCV000243281
RCV000603891
RCV000643619
RCV000769944
RCV001132751
RCV001132752
RCV001132753
RCV001132754
RCV001132755
RCV001532417
dbSNP Id:
rs537071956
ExAC:
2:179436817 T / C
gnomAD v2:
2-179436817-T-C
gnomAD v3:
2-178572090-T-C
gnomAD v4:
2-178572090-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572090T>C , CM000664.2:g.178572090T>C | GRCh38 |
| NC_000002.11:g.179436817T>C , CM000664.1:g.179436817T>C | GRCh37 |
| NC_000002.10:g.179145063T>C | NCBI36 |
| NG_011618.3:g.263713A>G , LRG_391:g.263713A>G | |
| NG_051363.1:g.54264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66338A>G (TTN) | ENSP00000343764.6:p.Gln22113Arg | |
| ENST00000342175.11:c.47423A>G (TTN) | ENSP00000340554.6:p.Gln15808Arg | |
| ENST00000359218.10:c.47222A>G (TTN) | ENSP00000352154.5:p.Gln15741Arg | |
| ENST00000342175.10:c.47423A>G (TTN) | ENSP00000340554.6:p.Gln15808Arg | |
| ENST00000342992.10:c.66338A>G (TTN) | ENSP00000343764.6:p.Gln22113Arg | |
| ENST00000359218.9:c.47222A>G (TTN) | ENSP00000352154.5:p.Gln15741Arg | |
| ENST00000460472.6:c.46847A>G (TTN) | ENSP00000434586.1:p.Gln15616Arg | |
| ENST00000589042.5:c.74042A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln24681Arg | |
| ENST00000591111.5:c.69119A>G (TTN) | ENSP00000465570.1:p.Gln23040Arg | |
| ENST00000615779.4:c.69119A>G (TTN) | ENSP00000483597.1:p.Gln23040Arg | |
| NM_001256850.1:c.69119A>G (TTN) | NP_001243779.1:p.Gln23040Arg | |
| NM_001267550.2:c.74042A>G (TTN) MANE Select | NP_001254479.2:p.Gln24681Arg | |
| NM_003319.4:c.46847A>G (TTN) | NP_003310.4:p.Gln15616Arg | |
| NM_133378.4:c.66338A>G (TTN) | NP_596869.4:p.Gln22113Arg | |
| NM_133432.3:c.47222A>G (TTN) | NP_597676.3:p.Gln15741Arg | |
| NM_133437.4:c.47423A>G (TTN) | NP_597681.4:p.Gln15808Arg | |
| NR_038271.1:n.596+641T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10482T>C (TTN-AS1) | ||
| XM_011511729.1:c.73139A>G (TTN) | XP_011510031.1:p.Gln24380Arg | |
| XM_011511730.1:c.47033A>G (TTN) | XP_011510032.1:p.Gln15678Arg | |
| XM_011511731.1:c.46892A>G (TTN) | XP_011510033.1:p.Gln15631Arg | |
| XM_017004819.1:c.72935A>G (TTN) | XP_016860308.1:p.Gln24312Arg | |
| XM_017004820.1:c.68333A>G (TTN) | XP_016860309.1:p.Gln22778Arg | |
| XM_017004821.1:c.68330A>G (TTN) | XP_016860310.1:p.Gln22777Arg | |
| XM_017004822.1:c.65372A>G (TTN) | XP_016860311.1:p.Gln21791Arg | |
| XM_017004823.1:c.46988A>G (TTN) | XP_016860312.1:p.Gln15663Arg | |
| XM_024453094.1:c.68483A>G (TTN) | XP_024308862.1:p.Gln22828Arg | |
| XM_024453095.1:c.68480A>G (TTN) | XP_024308863.1:p.Gln22827Arg | |
| XM_024453096.1:c.67913A>G (TTN) | XP_024308864.1:p.Gln22638Arg | |
| XM_024453097.1:c.65255A>G (TTN) | XP_024308865.1:p.Gln21752Arg | |
| XM_024453098.1:c.65174A>G (TTN) | XP_024308866.1:p.Gln21725Arg | |
| XM_024453099.1:c.46937A>G (TTN) | XP_024308867.1:p.Gln15646Arg | |
| XM_024453100.1:c.36791A>G (TTN) | XP_024308868.1:p.Gln12264Arg |