Linked Data
ClinVar Variation Id:
413106
ClinVar RCV Id:
RCV000470745
RCV000768868
RCV001128963
RCV001131621
RCV001131623
RCV001131624
RCV001131622
RCV002356714
RCV004539967
dbSNP Id:
rs555380931
ExAC:
2:179419463 A / C
gnomAD v2:
2-179419463-A-C
gnomAD v3:
2-178554736-A-C
gnomAD v4:
2-178554736-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554736A>C , CM000664.2:g.178554736A>C | GRCh38 |
| NC_000002.11:g.179419463A>C , CM000664.1:g.179419463A>C | GRCh37 |
| NC_000002.10:g.179127709A>C | NCBI36 |
| NG_011618.3:g.281067T>G , LRG_391:g.281067T>G | |
| NG_051363.1:g.36910A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80907T>G (TTN) | ENSP00000343764.6:p.Pro26969= | |
| ENST00000342175.11:c.61992T>G (TTN) | ENSP00000340554.6:p.Pro20664= | |
| ENST00000359218.10:c.61791T>G (TTN) | ENSP00000352154.5:p.Pro20597= | |
| ENST00000342175.10:c.61992T>G (TTN) | ENSP00000340554.6:p.Pro20664= | |
| ENST00000342992.10:c.80907T>G (TTN) | ENSP00000343764.6:p.Pro26969= | |
| ENST00000359218.9:c.61791T>G (TTN) | ENSP00000352154.5:p.Pro20597= | |
| ENST00000460472.6:c.61416T>G (TTN) | ENSP00000434586.1:p.Pro20472= | |
| ENST00000589042.5:c.88611T>G (TTN) MANE Select | ENSP00000467141.1:p.Pro29537= | |
| ENST00000591111.5:c.83688T>G (TTN) | ENSP00000465570.1:p.Pro27896= | |
| ENST00000615779.4:c.83688T>G (TTN) | ENSP00000483597.1:p.Pro27896= | |
| NM_001256850.1:c.83688T>G (TTN) | NP_001243779.1:p.Pro27896= | |
| NM_001267550.2:c.88611T>G (TTN) MANE Select | NP_001254479.2:p.Pro29537= | |
| NM_003319.4:c.61416T>G (TTN) | NP_003310.4:p.Pro20472= | |
| NM_133378.4:c.80907T>G (TTN) | NP_596869.4:p.Pro26969= | |
| NM_133432.3:c.61791T>G (TTN) | NP_597676.3:p.Pro20597= | |
| NM_133437.4:c.61992T>G (TTN) | NP_597681.4:p.Pro20664= | |
| NR_038271.1:n.447-16564A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+12375A>C (TTN-AS1) | ||
| XM_011511729.1:c.87708T>G (TTN) | XP_011510031.1:p.Pro29236= | |
| XM_011511730.1:c.61602T>G (TTN) | XP_011510032.1:p.Pro20534= | |
| XM_011511731.1:c.61461T>G (TTN) | XP_011510033.1:p.Pro20487= | |
| XM_017004819.1:c.87504T>G (TTN) | XP_016860308.1:p.Pro29168= | |
| XM_017004820.1:c.82902T>G (TTN) | XP_016860309.1:p.Pro27634= | |
| XM_017004821.1:c.82899T>G (TTN) | XP_016860310.1:p.Pro27633= | |
| XM_017004822.1:c.79941T>G (TTN) | XP_016860311.1:p.Pro26647= | |
| XM_017004823.1:c.61557T>G (TTN) | XP_016860312.1:p.Pro20519= | |
| XM_024453094.1:c.83052T>G (TTN) | XP_024308862.1:p.Pro27684= | |
| XM_024453095.1:c.83049T>G (TTN) | XP_024308863.1:p.Pro27683= | |
| XM_024453096.1:c.82482T>G (TTN) | XP_024308864.1:p.Pro27494= | |
| XM_024453097.1:c.79824T>G (TTN) | XP_024308865.1:p.Pro26608= | |
| XM_024453098.1:c.79743T>G (TTN) | XP_024308866.1:p.Pro26581= | |
| XM_024453099.1:c.61506T>G (TTN) | XP_024308867.1:p.Pro20502= | |
| XM_024453100.1:c.51360T>G (TTN) | XP_024308868.1:p.Pro17120= |