Linked Data
ClinVar Variation Id:
203076
dbSNP Id:
rs757940030
ExAC:
2:179397249 C / T
gnomAD v2:
2-179397249-C-T
gnomAD v3:
2-178532522-C-T
gnomAD v4:
2-178532522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532522C>T , CM000664.2:g.178532522C>T | GRCh38 |
| NC_000002.11:g.179397249C>T , CM000664.1:g.179397249C>T | GRCh37 |
| NC_000002.10:g.179105495C>T | NCBI36 |
| NG_011618.3:g.303281G>A , LRG_391:g.303281G>A | |
| NG_051363.1:g.14696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96389G>A (TTN) | ENSP00000343764.6:p.Arg32130Gln | |
| ENST00000342175.11:c.77474G>A (TTN) | ENSP00000340554.6:p.Arg25825Gln | |
| ENST00000359218.10:c.77273G>A (TTN) | ENSP00000352154.5:p.Arg25758Gln | |
| ENST00000342175.10:c.77474G>A (TTN) | ENSP00000340554.6:p.Arg25825Gln | |
| ENST00000342992.10:c.96389G>A (TTN) | ENSP00000343764.6:p.Arg32130Gln | |
| ENST00000359218.9:c.77273G>A (TTN) | ENSP00000352154.5:p.Arg25758Gln | |
| ENST00000460472.6:c.76898G>A (TTN) | ENSP00000434586.1:p.Arg25633Gln | |
| ENST00000589042.5:c.104093G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34698Gln | |
| ENST00000591111.5:c.99170G>A (TTN) | ENSP00000465570.1:p.Arg33057Gln | |
| ENST00000615779.4:c.99170G>A (TTN) | ENSP00000483597.1:p.Arg33057Gln | |
| NM_001256850.1:c.99170G>A (TTN) | NP_001243779.1:p.Arg33057Gln | |
| NM_001267550.2:c.104093G>A (TTN) MANE Select | NP_001254479.2:p.Arg34698Gln | |
| NM_003319.4:c.76898G>A (TTN) | NP_003310.4:p.Arg25633Gln | |
| NM_133378.4:c.96389G>A (TTN) | NP_596869.4:p.Arg32130Gln | |
| NM_133432.3:c.77273G>A (TTN) | NP_597676.3:p.Arg25758Gln | |
| NM_133437.4:c.77474G>A (TTN) | NP_597681.4:p.Arg25825Gln | |
| NR_038271.1:n.446+8886C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3210C>T (TTN-AS1) | ||
| XM_011511729.1:c.103190G>A (TTN) | XP_011510031.1:p.Arg34397Gln | |
| XM_011511730.1:c.77084G>A (TTN) | XP_011510032.1:p.Arg25695Gln | |
| XM_011511731.1:c.76943G>A (TTN) | XP_011510033.1:p.Arg25648Gln | |
| XM_017004819.1:c.102986G>A (TTN) | XP_016860308.1:p.Arg34329Gln | |
| XM_017004820.1:c.98384G>A (TTN) | XP_016860309.1:p.Arg32795Gln | |
| XM_017004821.1:c.98381G>A (TTN) | XP_016860310.1:p.Arg32794Gln | |
| XM_017004822.1:c.95423G>A (TTN) | XP_016860311.1:p.Arg31808Gln | |
| XM_017004823.1:c.77039G>A (TTN) | XP_016860312.1:p.Arg25680Gln | |
| XM_024453094.1:c.98534G>A (TTN) | XP_024308862.1:p.Arg32845Gln | |
| XM_024453095.1:c.98531G>A (TTN) | XP_024308863.1:p.Arg32844Gln | |
| XM_024453096.1:c.97964G>A (TTN) | XP_024308864.1:p.Arg32655Gln | |
| XM_024453097.1:c.95306G>A (TTN) | XP_024308865.1:p.Arg31769Gln | |
| XM_024453098.1:c.95225G>A (TTN) | XP_024308866.1:p.Arg31742Gln | |
| XM_024453099.1:c.76988G>A (TTN) | XP_024308867.1:p.Arg25663Gln | |
| XM_024453100.1:c.66842G>A (TTN) | XP_024308868.1:p.Arg22281Gln |