Linked Data
ClinVar Variation Id:
195791
ClinVar RCV Id:
RCV000724540
RCV001131648
RCV001132666
RCV000221057
RCV001088302
RCV001131647
RCV001132665
RCV001132667
RCV002426851
dbSNP Id:
rs368021072
ExAC:
2:179469495 T / C
gnomAD v2:
2-179469495-T-C
gnomAD v3:
2-178604768-T-C
gnomAD v4:
2-178604768-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604768T>C , CM000664.2:g.178604768T>C | GRCh38 |
| NC_000002.11:g.179469495T>C , CM000664.1:g.179469495T>C | GRCh37 |
| NC_000002.10:g.179177740T>C | NCBI36 |
| NG_011618.3:g.231035A>G , LRG_391:g.231035A>G | |
| NG_051363.1:g.86942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46617A>G (TTN) | ENSP00000343764.6:p.Ala15539= | |
| ENST00000342175.11:c.27702A>G (TTN) | ENSP00000340554.6:p.Ala9234= | |
| ENST00000359218.10:c.27501A>G (TTN) | ENSP00000352154.5:p.Ala9167= | |
| ENST00000342175.10:c.27702A>G (TTN) | ENSP00000340554.6:p.Ala9234= | |
| ENST00000342992.10:c.46617A>G (TTN) | ENSP00000343764.6:p.Ala15539= | |
| ENST00000359218.9:c.27501A>G (TTN) | ENSP00000352154.5:p.Ala9167= | |
| ENST00000460472.6:c.27126A>G (TTN) | ENSP00000434586.1:p.Ala9042= | |
| ENST00000589042.5:c.54321A>G (TTN) MANE Select | ENSP00000467141.1:p.Ala18107= | |
| ENST00000591111.5:c.49398A>G (TTN) | ENSP00000465570.1:p.Ala16466= | |
| ENST00000615779.4:c.49398A>G (TTN) | ENSP00000483597.1:p.Ala16466= | |
| NM_001256850.1:c.49398A>G (TTN) | NP_001243779.1:p.Ala16466= | |
| NM_001267550.2:c.54321A>G (TTN) MANE Select | NP_001254479.2:p.Ala18107= | |
| NM_003319.4:c.27126A>G (TTN) | NP_003310.4:p.Ala9042= | |
| NM_133378.4:c.46617A>G (TTN) | NP_596869.4:p.Ala15539= | |
| NM_133432.3:c.27501A>G (TTN) | NP_597676.3:p.Ala9167= | |
| NM_133437.4:c.27702A>G (TTN) | NP_597681.4:p.Ala9234= | |
| NR_038271.1:n.683-3399T>C (TTN-AS1) | ||
| NR_038272.1:n.3955T>C (TTN-AS1) | ||
| XM_011511729.1:c.53418A>G (TTN) | XP_011510031.1:p.Ala17806= | |
| XM_011511730.1:c.27312A>G (TTN) | XP_011510032.1:p.Ala9104= | |
| XM_011511731.1:c.27171A>G (TTN) | XP_011510033.1:p.Ala9057= | |
| XM_017004819.1:c.53214A>G (TTN) | XP_016860308.1:p.Ala17738= | |
| XM_017004820.1:c.48612A>G (TTN) | XP_016860309.1:p.Ala16204= | |
| XM_017004821.1:c.48609A>G (TTN) | XP_016860310.1:p.Ala16203= | |
| XM_017004822.1:c.45651A>G (TTN) | XP_016860311.1:p.Ala15217= | |
| XM_017004823.1:c.27267A>G (TTN) | XP_016860312.1:p.Ala9089= | |
| XM_024453094.1:c.48762A>G (TTN) | XP_024308862.1:p.Ala16254= | |
| XM_024453095.1:c.48759A>G (TTN) | XP_024308863.1:p.Ala16253= | |
| XM_024453096.1:c.48192A>G (TTN) | XP_024308864.1:p.Ala16064= | |
| XM_024453097.1:c.45534A>G (TTN) | XP_024308865.1:p.Ala15178= | |
| XM_024453098.1:c.45453A>G (TTN) | XP_024308866.1:p.Ala15151= | |
| XM_024453099.1:c.27216A>G (TTN) | XP_024308867.1:p.Ala9072= | |
| XM_024453100.1:c.17070A>G (TTN) | XP_024308868.1:p.Ala5690= |