Linked Data
ClinVar Variation Id:
195708
ClinVar RCV Id:
RCV000176342
RCV001130638
RCV001129943
RCV001130636
RCV001129942
RCV001130637
RCV001443544
RCV004020092
dbSNP Id:
rs532589236
ExAC:
2:179474980 C / T
gnomAD v2:
2-179474980-C-T
gnomAD v3:
2-178610253-C-T
gnomAD v4:
2-178610253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610253C>T , CM000664.2:g.178610253C>T | GRCh38 |
| NC_000002.11:g.179474980C>T , CM000664.1:g.179474980C>T | GRCh37 |
| NC_000002.10:g.179183225C>T | NCBI36 |
| NG_011618.3:g.225550G>A , LRG_391:g.225550G>A | |
| NG_051363.1:g.92427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43569G>A (TTN) | ENSP00000343764.6:p.Arg14523= | |
| ENST00000342175.11:c.24654G>A (TTN) | ENSP00000340554.6:p.Arg8218= | |
| ENST00000359218.10:c.24453G>A (TTN) | ENSP00000352154.5:p.Arg8151= | |
| ENST00000342175.10:c.24654G>A (TTN) | ENSP00000340554.6:p.Arg8218= | |
| ENST00000342992.10:c.43569G>A (TTN) | ENSP00000343764.6:p.Arg14523= | |
| ENST00000359218.9:c.24453G>A (TTN) | ENSP00000352154.5:p.Arg8151= | |
| ENST00000460472.6:c.24078G>A (TTN) | ENSP00000434586.1:p.Arg8026= | |
| ENST00000589042.5:c.51273G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17091= | |
| ENST00000591111.5:c.46350G>A (TTN) | ENSP00000465570.1:p.Arg15450= | |
| ENST00000615779.4:c.46350G>A (TTN) | ENSP00000483597.1:p.Arg15450= | |
| NM_001256850.1:c.46350G>A (TTN) | NP_001243779.1:p.Arg15450= | |
| NM_001267550.2:c.51273G>A (TTN) MANE Select | NP_001254479.2:p.Arg17091= | |
| NM_003319.4:c.24078G>A (TTN) | NP_003310.4:p.Arg8026= | |
| NM_133378.4:c.43569G>A (TTN) | NP_596869.4:p.Arg14523= | |
| NM_133432.3:c.24453G>A (TTN) | NP_597676.3:p.Arg8151= | |
| NM_133437.4:c.24654G>A (TTN) | NP_597681.4:p.Arg8218= | |
| NR_038271.1:n.782+1987C>T (TTN-AS1) | ||
| XM_011511729.1:c.50370G>A (TTN) | XP_011510031.1:p.Arg16790= | |
| XM_011511730.1:c.24264G>A (TTN) | XP_011510032.1:p.Arg8088= | |
| XM_011511731.1:c.24123G>A (TTN) | XP_011510033.1:p.Arg8041= | |
| XM_017004819.1:c.50166G>A (TTN) | XP_016860308.1:p.Arg16722= | |
| XM_017004820.1:c.45564G>A (TTN) | XP_016860309.1:p.Arg15188= | |
| XM_017004821.1:c.45561G>A (TTN) | XP_016860310.1:p.Arg15187= | |
| XM_017004822.1:c.42603G>A (TTN) | XP_016860311.1:p.Arg14201= | |
| XM_017004823.1:c.24219G>A (TTN) | XP_016860312.1:p.Arg8073= | |
| XM_024453094.1:c.45714G>A (TTN) | XP_024308862.1:p.Arg15238= | |
| XM_024453095.1:c.45711G>A (TTN) | XP_024308863.1:p.Arg15237= | |
| XM_024453096.1:c.45144G>A (TTN) | XP_024308864.1:p.Arg15048= | |
| XM_024453097.1:c.42486G>A (TTN) | XP_024308865.1:p.Arg14162= | |
| XM_024453098.1:c.42405G>A (TTN) | XP_024308866.1:p.Arg14135= | |
| XM_024453099.1:c.24168G>A (TTN) | XP_024308867.1:p.Arg8056= | |
| XM_024453100.1:c.14022G>A (TTN) | XP_024308868.1:p.Arg4674= |