Linked Data
ClinVar Variation Id:
284002
ClinVar RCV Id:
RCV000274809
RCV000643584
RCV001131858
RCV001132844
RCV001132845
RCV001132846
RCV001132843
RCV001798771
RCV002418111
RCV003987488
dbSNP Id:
rs200716018
ExAC:
2:179394776 T / C
gnomAD v2:
2-179394776-T-C
gnomAD v3:
2-178530049-T-C
gnomAD v4:
2-178530049-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530049T>C , CM000664.2:g.178530049T>C | GRCh38 |
| NC_000002.11:g.179394776T>C , CM000664.1:g.179394776T>C | GRCh37 |
| NC_000002.10:g.179103022T>C | NCBI36 |
| NG_011618.3:g.305754A>G , LRG_391:g.305754A>G | |
| NG_051363.1:g.12223T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98738A>G (TTN) | ENSP00000343764.6:p.Lys32913Arg | |
| ENST00000342175.11:c.79823A>G (TTN) | ENSP00000340554.6:p.Lys26608Arg | |
| ENST00000359218.10:c.79622A>G (TTN) | ENSP00000352154.5:p.Lys26541Arg | |
| ENST00000342175.10:c.79823A>G (TTN) | ENSP00000340554.6:p.Lys26608Arg | |
| ENST00000342992.10:c.98738A>G (TTN) | ENSP00000343764.6:p.Lys32913Arg | |
| ENST00000359218.9:c.79622A>G (TTN) | ENSP00000352154.5:p.Lys26541Arg | |
| ENST00000460472.6:c.79247A>G (TTN) | ENSP00000434586.1:p.Lys26416Arg | |
| ENST00000589042.5:c.106442A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys35481Arg | |
| ENST00000591111.5:c.101519A>G (TTN) | ENSP00000465570.1:p.Lys33840Arg | |
| ENST00000615779.4:c.101519A>G (TTN) | ENSP00000483597.1:p.Lys33840Arg | |
| NM_001256850.1:c.101519A>G (TTN) | NP_001243779.1:p.Lys33840Arg | |
| NM_001267550.2:c.106442A>G (TTN) MANE Select | NP_001254479.2:p.Lys35481Arg | |
| NM_003319.4:c.79247A>G (TTN) | NP_003310.4:p.Lys26416Arg | |
| NM_133378.4:c.98738A>G (TTN) | NP_596869.4:p.Lys32913Arg | |
| NM_133432.3:c.79622A>G (TTN) | NP_597676.3:p.Lys26541Arg | |
| NM_133437.4:c.79823A>G (TTN) | NP_597681.4:p.Lys26608Arg | |
| NR_038271.1:n.446+6413T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5683T>C (TTN-AS1) | ||
| XM_011511729.1:c.105539A>G (TTN) | XP_011510031.1:p.Lys35180Arg | |
| XM_011511730.1:c.79433A>G (TTN) | XP_011510032.1:p.Lys26478Arg | |
| XM_011511731.1:c.79292A>G (TTN) | XP_011510033.1:p.Lys26431Arg | |
| XM_017004819.1:c.105335A>G (TTN) | XP_016860308.1:p.Lys35112Arg | |
| XM_017004820.1:c.100733A>G (TTN) | XP_016860309.1:p.Lys33578Arg | |
| XM_017004821.1:c.100730A>G (TTN) | XP_016860310.1:p.Lys33577Arg | |
| XM_017004822.1:c.97772A>G (TTN) | XP_016860311.1:p.Lys32591Arg | |
| XM_017004823.1:c.79388A>G (TTN) | XP_016860312.1:p.Lys26463Arg | |
| XM_024453094.1:c.100883A>G (TTN) | XP_024308862.1:p.Lys33628Arg | |
| XM_024453095.1:c.100880A>G (TTN) | XP_024308863.1:p.Lys33627Arg | |
| XM_024453096.1:c.100313A>G (TTN) | XP_024308864.1:p.Lys33438Arg | |
| XM_024453097.1:c.97655A>G (TTN) | XP_024308865.1:p.Lys32552Arg | |
| XM_024453098.1:c.97574A>G (TTN) | XP_024308866.1:p.Lys32525Arg | |
| XM_024453099.1:c.79337A>G (TTN) | XP_024308867.1:p.Lys26446Arg | |
| XM_024453100.1:c.69191A>G (TTN) | XP_024308868.1:p.Lys23064Arg |