Linked Data
ClinVar Variation Id:
332707
dbSNP Id:
rs779723670
ExAC:
2:179402519 T / C
gnomAD v2:
2-179402519-T-C
gnomAD v3:
2-178537792-T-C
gnomAD v4:
2-178537792-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537792T>C , CM000664.2:g.178537792T>C | GRCh38 |
| NC_000002.11:g.179402519T>C , CM000664.1:g.179402519T>C | GRCh37 |
| NC_000002.10:g.179110765T>C | NCBI36 |
| NG_011618.3:g.298011A>G , LRG_391:g.298011A>G | |
| NG_051363.1:g.19966T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.91711A>G (TTN) | ENSP00000343764.6:p.Lys30571Glu | |
| ENST00000342175.11:c.72796A>G (TTN) | ENSP00000340554.6:p.Lys24266Glu | |
| ENST00000359218.10:c.72595A>G (TTN) | ENSP00000352154.5:p.Lys24199Glu | |
| ENST00000342175.10:c.72796A>G (TTN) | ENSP00000340554.6:p.Lys24266Glu | |
| ENST00000342992.10:c.91711A>G (TTN) | ENSP00000343764.6:p.Lys30571Glu | |
| ENST00000359218.9:c.72595A>G (TTN) | ENSP00000352154.5:p.Lys24199Glu | |
| ENST00000460472.6:c.72220A>G (TTN) | ENSP00000434586.1:p.Lys24074Glu | |
| ENST00000589042.5:c.99415A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys33139Glu | |
| ENST00000591111.5:c.94492A>G (TTN) | ENSP00000465570.1:p.Lys31498Glu | |
| ENST00000615779.4:c.94492A>G (TTN) | ENSP00000483597.1:p.Lys31498Glu | |
| NM_001256850.1:c.94492A>G (TTN) | NP_001243779.1:p.Lys31498Glu | |
| NM_001267550.2:c.99415A>G (TTN) MANE Select | NP_001254479.2:p.Lys33139Glu | |
| NM_003319.4:c.72220A>G (TTN) | NP_003310.4:p.Lys24074Glu | |
| NM_133378.4:c.91711A>G (TTN) | NP_596869.4:p.Lys30571Glu | |
| NM_133432.3:c.72595A>G (TTN) | NP_597676.3:p.Lys24199Glu | |
| NM_133437.4:c.72796A>G (TTN) | NP_597681.4:p.Lys24266Glu | |
| NR_038271.1:n.446+14156T>C (TTN-AS1) | ||
| NR_038272.1:n.647+101T>C (TTN-AS1) | ||
| XM_011511729.1:c.98512A>G (TTN) | XP_011510031.1:p.Lys32838Glu | |
| XM_011511730.1:c.72406A>G (TTN) | XP_011510032.1:p.Lys24136Glu | |
| XM_011511731.1:c.72265A>G (TTN) | XP_011510033.1:p.Lys24089Glu | |
| XM_017004819.1:c.98308A>G (TTN) | XP_016860308.1:p.Lys32770Glu | |
| XM_017004820.1:c.93706A>G (TTN) | XP_016860309.1:p.Lys31236Glu | |
| XM_017004821.1:c.93703A>G (TTN) | XP_016860310.1:p.Lys31235Glu | |
| XM_017004822.1:c.90745A>G (TTN) | XP_016860311.1:p.Lys30249Glu | |
| XM_017004823.1:c.72361A>G (TTN) | XP_016860312.1:p.Lys24121Glu | |
| XM_024453094.1:c.93856A>G (TTN) | XP_024308862.1:p.Lys31286Glu | |
| XM_024453095.1:c.93853A>G (TTN) | XP_024308863.1:p.Lys31285Glu | |
| XM_024453096.1:c.93286A>G (TTN) | XP_024308864.1:p.Lys31096Glu | |
| XM_024453097.1:c.90628A>G (TTN) | XP_024308865.1:p.Lys30210Glu | |
| XM_024453098.1:c.90547A>G (TTN) | XP_024308866.1:p.Lys30183Glu | |
| XM_024453099.1:c.72310A>G (TTN) | XP_024308867.1:p.Lys24104Glu | |
| XM_024453100.1:c.62164A>G (TTN) | XP_024308868.1:p.Lys20722Glu |