Linked Data
ClinVar Variation Id:
47177
ClinVar RCV Id:
RCV000040447
RCV000172651
RCV000300024
RCV000279995
RCV000335020
RCV000378989
RCV000401779
RCV000621320
RCV000768965
RCV000852829
RCV001084857
RCV002222152
RCV004534916
dbSNP Id:
rs199895260
ExAC:
2:179454530 C / T
gnomAD v2:
2-179454530-C-T
gnomAD v3:
2-178589803-C-T
gnomAD v4:
2-178589803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589803C>T , CM000664.2:g.178589803C>T | GRCh38 |
| NC_000002.11:g.179454530C>T , CM000664.1:g.179454530C>T | GRCh37 |
| NC_000002.10:g.179162776C>T | NCBI36 |
| NG_011618.3:g.246000G>A , LRG_391:g.246000G>A | |
| NG_051363.1:g.71977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54218G>A (TTN) | ENSP00000343764.6:p.Arg18073Gln | |
| ENST00000342175.11:c.35303G>A (TTN) | ENSP00000340554.6:p.Arg11768Gln | |
| ENST00000359218.10:c.35102G>A (TTN) | ENSP00000352154.5:p.Arg11701Gln | |
| ENST00000342175.10:c.35303G>A (TTN) | ENSP00000340554.6:p.Arg11768Gln | |
| ENST00000342992.10:c.54218G>A (TTN) | ENSP00000343764.6:p.Arg18073Gln | |
| ENST00000359218.9:c.35102G>A (TTN) | ENSP00000352154.5:p.Arg11701Gln | |
| ENST00000460472.6:c.34727G>A (TTN) | ENSP00000434586.1:p.Arg11576Gln | |
| ENST00000589042.5:c.61922G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20641Gln | |
| ENST00000591111.5:c.56999G>A (TTN) | ENSP00000465570.1:p.Arg19000Gln | |
| ENST00000615779.4:c.56999G>A (TTN) | ENSP00000483597.1:p.Arg19000Gln | |
| NM_001256850.1:c.56999G>A (TTN) | NP_001243779.1:p.Arg19000Gln | |
| NM_001267550.2:c.61922G>A (TTN) MANE Select | NP_001254479.2:p.Arg20641Gln | |
| NM_003319.4:c.34727G>A (TTN) | NP_003310.4:p.Arg11576Gln | |
| NM_133378.4:c.54218G>A (TTN) | NP_596869.4:p.Arg18073Gln | |
| NM_133432.3:c.35102G>A (TTN) | NP_597676.3:p.Arg11701Gln | |
| NM_133437.4:c.35303G>A (TTN) | NP_597681.4:p.Arg11768Gln | |
| NR_038271.1:n.597-7793C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1336C>T (TTN-AS1) | ||
| XM_011511729.1:c.61019G>A (TTN) | XP_011510031.1:p.Arg20340Gln | |
| XM_011511730.1:c.34913G>A (TTN) | XP_011510032.1:p.Arg11638Gln | |
| XM_011511731.1:c.34772G>A (TTN) | XP_011510033.1:p.Arg11591Gln | |
| XM_017004819.1:c.60815G>A (TTN) | XP_016860308.1:p.Arg20272Gln | |
| XM_017004820.1:c.56213G>A (TTN) | XP_016860309.1:p.Arg18738Gln | |
| XM_017004821.1:c.56210G>A (TTN) | XP_016860310.1:p.Arg18737Gln | |
| XM_017004822.1:c.53252G>A (TTN) | XP_016860311.1:p.Arg17751Gln | |
| XM_017004823.1:c.34868G>A (TTN) | XP_016860312.1:p.Arg11623Gln | |
| XM_024453094.1:c.56363G>A (TTN) | XP_024308862.1:p.Arg18788Gln | |
| XM_024453095.1:c.56360G>A (TTN) | XP_024308863.1:p.Arg18787Gln | |
| XM_024453096.1:c.55793G>A (TTN) | XP_024308864.1:p.Arg18598Gln | |
| XM_024453097.1:c.53135G>A (TTN) | XP_024308865.1:p.Arg17712Gln | |
| XM_024453098.1:c.53054G>A (TTN) | XP_024308866.1:p.Arg17685Gln | |
| XM_024453099.1:c.34817G>A (TTN) | XP_024308867.1:p.Arg11606Gln | |
| XM_024453100.1:c.24671G>A (TTN) | XP_024308868.1:p.Arg8224Gln |