Linked Data
ClinVar Variation Id:
196646
dbSNP Id:
rs745406517
ExAC:
2:179401673 C / T
gnomAD v2:
2-179401673-C-T
gnomAD v3:
2-178536946-C-T
gnomAD v4:
2-178536946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536946C>T , CM000664.2:g.178536946C>T | GRCh38 |
| NC_000002.11:g.179401673C>T , CM000664.1:g.179401673C>T | GRCh37 |
| NC_000002.10:g.179109919C>T | NCBI36 |
| NG_011618.3:g.298857G>A , LRG_391:g.298857G>A | |
| NG_051363.1:g.19120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92459G>A (TTN) | ENSP00000343764.6:p.Ser30820Asn | |
| ENST00000342175.11:c.73544G>A (TTN) | ENSP00000340554.6:p.Ser24515Asn | |
| ENST00000359218.10:c.73343G>A (TTN) | ENSP00000352154.5:p.Ser24448Asn | |
| ENST00000342175.10:c.73544G>A (TTN) | ENSP00000340554.6:p.Ser24515Asn | |
| ENST00000342992.10:c.92459G>A (TTN) | ENSP00000343764.6:p.Ser30820Asn | |
| ENST00000359218.9:c.73343G>A (TTN) | ENSP00000352154.5:p.Ser24448Asn | |
| ENST00000460472.6:c.72968G>A (TTN) | ENSP00000434586.1:p.Ser24323Asn | |
| ENST00000589042.5:c.100163G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser33388Asn | |
| ENST00000591111.5:c.95240G>A (TTN) | ENSP00000465570.1:p.Ser31747Asn | |
| ENST00000615779.4:c.95240G>A (TTN) | ENSP00000483597.1:p.Ser31747Asn | |
| NM_001256850.1:c.95240G>A (TTN) | NP_001243779.1:p.Ser31747Asn | |
| NM_001267550.2:c.100163G>A (TTN) MANE Select | NP_001254479.2:p.Ser33388Asn | |
| NM_003319.4:c.72968G>A (TTN) | NP_003310.4:p.Ser24323Asn | |
| NM_133378.4:c.92459G>A (TTN) | NP_596869.4:p.Ser30820Asn | |
| NM_133432.3:c.73343G>A (TTN) | NP_597676.3:p.Ser24448Asn | |
| NM_133437.4:c.73544G>A (TTN) | NP_597681.4:p.Ser24515Asn | |
| NR_038271.1:n.446+13310C>T (TTN-AS1) | ||
| NR_038272.1:n.317-415C>T (TTN-AS1) | ||
| XM_011511729.1:c.99260G>A (TTN) | XP_011510031.1:p.Ser33087Asn | |
| XM_011511730.1:c.73154G>A (TTN) | XP_011510032.1:p.Ser24385Asn | |
| XM_011511731.1:c.73013G>A (TTN) | XP_011510033.1:p.Ser24338Asn | |
| XM_017004819.1:c.99056G>A (TTN) | XP_016860308.1:p.Ser33019Asn | |
| XM_017004820.1:c.94454G>A (TTN) | XP_016860309.1:p.Ser31485Asn | |
| XM_017004821.1:c.94451G>A (TTN) | XP_016860310.1:p.Ser31484Asn | |
| XM_017004822.1:c.91493G>A (TTN) | XP_016860311.1:p.Ser30498Asn | |
| XM_017004823.1:c.73109G>A (TTN) | XP_016860312.1:p.Ser24370Asn | |
| XM_024453094.1:c.94604G>A (TTN) | XP_024308862.1:p.Ser31535Asn | |
| XM_024453095.1:c.94601G>A (TTN) | XP_024308863.1:p.Ser31534Asn | |
| XM_024453096.1:c.94034G>A (TTN) | XP_024308864.1:p.Ser31345Asn | |
| XM_024453097.1:c.91376G>A (TTN) | XP_024308865.1:p.Ser30459Asn | |
| XM_024453098.1:c.91295G>A (TTN) | XP_024308866.1:p.Ser30432Asn | |
| XM_024453099.1:c.73058G>A (TTN) | XP_024308867.1:p.Ser24353Asn | |
| XM_024453100.1:c.62912G>A (TTN) | XP_024308868.1:p.Ser20971Asn |