Linked Data
ClinVar Variation Id:
47656
ClinVar RCV Id:
RCV000040925
RCV000172604
RCV000465722
RCV000491304
RCV000769849
RCV001293056
RCV001333490
RCV002390175
dbSNP Id:
rs72629783
ExAC:
2:179398465 T / C
gnomAD v2:
2-179398465-T-C
gnomAD v3:
2-178533738-T-C
gnomAD v4:
2-178533738-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533738T>C , CM000664.2:g.178533738T>C | GRCh38 |
| NC_000002.11:g.179398465T>C , CM000664.1:g.179398465T>C | GRCh37 |
| NC_000002.10:g.179106711T>C | NCBI36 |
| NG_011618.3:g.302065A>G , LRG_391:g.302065A>G | |
| NG_051363.1:g.15912T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95173A>G (TTN) | ENSP00000343764.6:p.Lys31725Glu | |
| ENST00000342175.11:c.76258A>G (TTN) | ENSP00000340554.6:p.Lys25420Glu | |
| ENST00000359218.10:c.76057A>G (TTN) | ENSP00000352154.5:p.Lys25353Glu | |
| ENST00000342175.10:c.76258A>G (TTN) | ENSP00000340554.6:p.Lys25420Glu | |
| ENST00000342992.10:c.95173A>G (TTN) | ENSP00000343764.6:p.Lys31725Glu | |
| ENST00000359218.9:c.76057A>G (TTN) | ENSP00000352154.5:p.Lys25353Glu | |
| ENST00000460472.6:c.75682A>G (TTN) | ENSP00000434586.1:p.Lys25228Glu | |
| ENST00000589042.5:c.102877A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys34293Glu | |
| ENST00000591111.5:c.97954A>G (TTN) | ENSP00000465570.1:p.Lys32652Glu | |
| ENST00000615779.4:c.97954A>G (TTN) | ENSP00000483597.1:p.Lys32652Glu | |
| NM_001256850.1:c.97954A>G (TTN) | NP_001243779.1:p.Lys32652Glu | |
| NM_001267550.2:c.102877A>G (TTN) MANE Select | NP_001254479.2:p.Lys34293Glu | |
| NM_003319.4:c.75682A>G (TTN) | NP_003310.4:p.Lys25228Glu | |
| NM_133378.4:c.95173A>G (TTN) | NP_596869.4:p.Lys31725Glu | |
| NM_133432.3:c.76057A>G (TTN) | NP_597676.3:p.Lys25353Glu | |
| NM_133437.4:c.76258A>G (TTN) | NP_597681.4:p.Lys25420Glu | |
| NR_038271.1:n.446+10102T>C (TTN-AS1) | ||
| NR_038272.1:n.220-1994T>C (TTN-AS1) | ||
| XM_011511729.1:c.101974A>G (TTN) | XP_011510031.1:p.Lys33992Glu | |
| XM_011511730.1:c.75868A>G (TTN) | XP_011510032.1:p.Lys25290Glu | |
| XM_011511731.1:c.75727A>G (TTN) | XP_011510033.1:p.Lys25243Glu | |
| XM_017004819.1:c.101770A>G (TTN) | XP_016860308.1:p.Lys33924Glu | |
| XM_017004820.1:c.97168A>G (TTN) | XP_016860309.1:p.Lys32390Glu | |
| XM_017004821.1:c.97165A>G (TTN) | XP_016860310.1:p.Lys32389Glu | |
| XM_017004822.1:c.94207A>G (TTN) | XP_016860311.1:p.Lys31403Glu | |
| XM_017004823.1:c.75823A>G (TTN) | XP_016860312.1:p.Lys25275Glu | |
| XM_024453094.1:c.97318A>G (TTN) | XP_024308862.1:p.Lys32440Glu | |
| XM_024453095.1:c.97315A>G (TTN) | XP_024308863.1:p.Lys32439Glu | |
| XM_024453096.1:c.96748A>G (TTN) | XP_024308864.1:p.Lys32250Glu | |
| XM_024453097.1:c.94090A>G (TTN) | XP_024308865.1:p.Lys31364Glu | |
| XM_024453098.1:c.94009A>G (TTN) | XP_024308866.1:p.Lys31337Glu | |
| XM_024453099.1:c.75772A>G (TTN) | XP_024308867.1:p.Lys25258Glu | |
| XM_024453100.1:c.65626A>G (TTN) | XP_024308868.1:p.Lys21876Glu |