Linked Data
ClinVar Variation Id:
202685
ClinVar RCV Id:
RCV000184590
RCV000327937
RCV000458919
RCV001133612
RCV001133613
RCV001135102
RCV001135103
RCV001133611
RCV002444752
dbSNP Id:
rs750610895
ExAC:
2:179476237 T / C
gnomAD v2:
2-179476237-T-C
gnomAD v3:
2-178611510-T-C
gnomAD v4:
2-178611510-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611510T>C , CM000664.2:g.178611510T>C | GRCh38 |
| NC_000002.11:g.179476237T>C , CM000664.1:g.179476237T>C | GRCh37 |
| NC_000002.10:g.179184482T>C | NCBI36 |
| NG_011618.3:g.224293A>G , LRG_391:g.224293A>G | |
| NG_051363.1:g.93684T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43015A>G (TTN) | ENSP00000343764.6:p.Ile14339Val | |
| ENST00000342175.11:c.24100A>G (TTN) | ENSP00000340554.6:p.Ile8034Val | |
| ENST00000359218.10:c.23899A>G (TTN) | ENSP00000352154.5:p.Ile7967Val | |
| ENST00000342175.10:c.24100A>G (TTN) | ENSP00000340554.6:p.Ile8034Val | |
| ENST00000342992.10:c.43015A>G (TTN) | ENSP00000343764.6:p.Ile14339Val | |
| ENST00000359218.9:c.23899A>G (TTN) | ENSP00000352154.5:p.Ile7967Val | |
| ENST00000460472.6:c.23524A>G (TTN) | ENSP00000434586.1:p.Ile7842Val | |
| ENST00000589042.5:c.50719A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16907Val | |
| ENST00000591111.5:c.45796A>G (TTN) | ENSP00000465570.1:p.Ile15266Val | |
| ENST00000615779.4:c.45796A>G (TTN) | ENSP00000483597.1:p.Ile15266Val | |
| NM_001256850.1:c.45796A>G (TTN) | NP_001243779.1:p.Ile15266Val | |
| NM_001267550.2:c.50719A>G (TTN) MANE Select | NP_001254479.2:p.Ile16907Val | |
| NM_003319.4:c.23524A>G (TTN) | NP_003310.4:p.Ile7842Val | |
| NM_133378.4:c.43015A>G (TTN) | NP_596869.4:p.Ile14339Val | |
| NM_133432.3:c.23899A>G (TTN) | NP_597676.3:p.Ile7967Val | |
| NM_133437.4:c.24100A>G (TTN) | NP_597681.4:p.Ile8034Val | |
| NR_038271.1:n.783-2525T>C (TTN-AS1) | ||
| XM_011511729.1:c.49816A>G (TTN) | XP_011510031.1:p.Ile16606Val | |
| XM_011511730.1:c.23710A>G (TTN) | XP_011510032.1:p.Ile7904Val | |
| XM_011511731.1:c.23569A>G (TTN) | XP_011510033.1:p.Ile7857Val | |
| XM_017004819.1:c.49612A>G (TTN) | XP_016860308.1:p.Ile16538Val | |
| XM_017004820.1:c.45010A>G (TTN) | XP_016860309.1:p.Ile15004Val | |
| XM_017004821.1:c.45007A>G (TTN) | XP_016860310.1:p.Ile15003Val | |
| XM_017004822.1:c.42049A>G (TTN) | XP_016860311.1:p.Ile14017Val | |
| XM_017004823.1:c.23665A>G (TTN) | XP_016860312.1:p.Ile7889Val | |
| XM_024453094.1:c.45160A>G (TTN) | XP_024308862.1:p.Ile15054Val | |
| XM_024453095.1:c.45157A>G (TTN) | XP_024308863.1:p.Ile15053Val | |
| XM_024453096.1:c.44590A>G (TTN) | XP_024308864.1:p.Ile14864Val | |
| XM_024453097.1:c.41932A>G (TTN) | XP_024308865.1:p.Ile13978Val | |
| XM_024453098.1:c.41851A>G (TTN) | XP_024308866.1:p.Ile13951Val | |
| XM_024453099.1:c.23614A>G (TTN) | XP_024308867.1:p.Ile7872Val | |
| XM_024453100.1:c.13468A>G (TTN) | XP_024308868.1:p.Ile4490Val |