Linked Data
ClinVar Variation Id:
130690
dbSNP Id:
rs148525155
ExAC:
2:179398195 C / G
gnomAD v2:
2-179398195-C-G
gnomAD v3:
2-178533468-C-G
gnomAD v4:
2-178533468-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533468C>G , CM000664.2:g.178533468C>G | GRCh38 |
| NC_000002.11:g.179398195C>G , CM000664.1:g.179398195C>G | GRCh37 |
| NC_000002.10:g.179106441C>G | NCBI36 |
| NG_011618.3:g.302335G>C , LRG_391:g.302335G>C | |
| NG_051363.1:g.15642C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95443G>C (TTN) | ENSP00000343764.6:p.Glu31815Gln | |
| ENST00000342175.11:c.76528G>C (TTN) | ENSP00000340554.6:p.Glu25510Gln | |
| ENST00000359218.10:c.76327G>C (TTN) | ENSP00000352154.5:p.Glu25443Gln | |
| ENST00000342175.10:c.76528G>C (TTN) | ENSP00000340554.6:p.Glu25510Gln | |
| ENST00000342992.10:c.95443G>C (TTN) | ENSP00000343764.6:p.Glu31815Gln | |
| ENST00000359218.9:c.76327G>C (TTN) | ENSP00000352154.5:p.Glu25443Gln | |
| ENST00000460472.6:c.75952G>C (TTN) | ENSP00000434586.1:p.Glu25318Gln | |
| ENST00000589042.5:c.103147G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu34383Gln | |
| ENST00000591111.5:c.98224G>C (TTN) | ENSP00000465570.1:p.Glu32742Gln | |
| ENST00000615779.4:c.98224G>C (TTN) | ENSP00000483597.1:p.Glu32742Gln | |
| NM_001256850.1:c.98224G>C (TTN) | NP_001243779.1:p.Glu32742Gln | |
| NM_001267550.2:c.103147G>C (TTN) MANE Select | NP_001254479.2:p.Glu34383Gln | |
| NM_003319.4:c.75952G>C (TTN) | NP_003310.4:p.Glu25318Gln | |
| NM_133378.4:c.95443G>C (TTN) | NP_596869.4:p.Glu31815Gln | |
| NM_133432.3:c.76327G>C (TTN) | NP_597676.3:p.Glu25443Gln | |
| NM_133437.4:c.76528G>C (TTN) | NP_597681.4:p.Glu25510Gln | |
| NR_038271.1:n.446+9832C>G (TTN-AS1) | ||
| NR_038272.1:n.220-2264C>G (TTN-AS1) | ||
| XM_011511729.1:c.102244G>C (TTN) | XP_011510031.1:p.Glu34082Gln | |
| XM_011511730.1:c.76138G>C (TTN) | XP_011510032.1:p.Glu25380Gln | |
| XM_011511731.1:c.75997G>C (TTN) | XP_011510033.1:p.Glu25333Gln | |
| XM_017004819.1:c.102040G>C (TTN) | XP_016860308.1:p.Glu34014Gln | |
| XM_017004820.1:c.97438G>C (TTN) | XP_016860309.1:p.Glu32480Gln | |
| XM_017004821.1:c.97435G>C (TTN) | XP_016860310.1:p.Glu32479Gln | |
| XM_017004822.1:c.94477G>C (TTN) | XP_016860311.1:p.Glu31493Gln | |
| XM_017004823.1:c.76093G>C (TTN) | XP_016860312.1:p.Glu25365Gln | |
| XM_024453094.1:c.97588G>C (TTN) | XP_024308862.1:p.Glu32530Gln | |
| XM_024453095.1:c.97585G>C (TTN) | XP_024308863.1:p.Glu32529Gln | |
| XM_024453096.1:c.97018G>C (TTN) | XP_024308864.1:p.Glu32340Gln | |
| XM_024453097.1:c.94360G>C (TTN) | XP_024308865.1:p.Glu31454Gln | |
| XM_024453098.1:c.94279G>C (TTN) | XP_024308866.1:p.Glu31427Gln | |
| XM_024453099.1:c.76042G>C (TTN) | XP_024308867.1:p.Glu25348Gln | |
| XM_024453100.1:c.65896G>C (TTN) | XP_024308868.1:p.Glu21966Gln |