Linked Data
ClinVar Variation Id:
332846
ClinVar RCV Id:
RCV000286117
RCV000344314
RCV000340928
RCV000390795
RCV000383600
RCV000602149
RCV000643212
RCV001697826
dbSNP Id:
rs768961892
ExAC:
2:179474623 C / G
gnomAD v2:
2-179474623-C-G
gnomAD v3:
2-178609896-C-G
gnomAD v4:
2-178609896-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609896C>G , CM000664.2:g.178609896C>G | GRCh38 |
| NC_000002.11:g.179474623C>G , CM000664.1:g.179474623C>G | GRCh37 |
| NC_000002.10:g.179182868C>G | NCBI36 |
| NG_011618.3:g.225907G>C , LRG_391:g.225907G>C | |
| NG_051363.1:g.92070C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43823G>C (TTN) | ENSP00000343764.6:p.Gly14608Ala | |
| ENST00000342175.11:c.24908G>C (TTN) | ENSP00000340554.6:p.Gly8303Ala | |
| ENST00000359218.10:c.24707G>C (TTN) | ENSP00000352154.5:p.Gly8236Ala | |
| ENST00000342175.10:c.24908G>C (TTN) | ENSP00000340554.6:p.Gly8303Ala | |
| ENST00000342992.10:c.43823G>C (TTN) | ENSP00000343764.6:p.Gly14608Ala | |
| ENST00000359218.9:c.24707G>C (TTN) | ENSP00000352154.5:p.Gly8236Ala | |
| ENST00000460472.6:c.24332G>C (TTN) | ENSP00000434586.1:p.Gly8111Ala | |
| ENST00000589042.5:c.51527G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly17176Ala | |
| ENST00000591111.5:c.46604G>C (TTN) | ENSP00000465570.1:p.Gly15535Ala | |
| ENST00000615779.4:c.46604G>C (TTN) | ENSP00000483597.1:p.Gly15535Ala | |
| NM_001256850.1:c.46604G>C (TTN) | NP_001243779.1:p.Gly15535Ala | |
| NM_001267550.2:c.51527G>C (TTN) MANE Select | NP_001254479.2:p.Gly17176Ala | |
| NM_003319.4:c.24332G>C (TTN) | NP_003310.4:p.Gly8111Ala | |
| NM_133378.4:c.43823G>C (TTN) | NP_596869.4:p.Gly14608Ala | |
| NM_133432.3:c.24707G>C (TTN) | NP_597676.3:p.Gly8236Ala | |
| NM_133437.4:c.24908G>C (TTN) | NP_597681.4:p.Gly8303Ala | |
| NR_038271.1:n.782+1630C>G (TTN-AS1) | ||
| XM_011511729.1:c.50624G>C (TTN) | XP_011510031.1:p.Gly16875Ala | |
| XM_011511730.1:c.24518G>C (TTN) | XP_011510032.1:p.Gly8173Ala | |
| XM_011511731.1:c.24377G>C (TTN) | XP_011510033.1:p.Gly8126Ala | |
| XM_017004819.1:c.50420G>C (TTN) | XP_016860308.1:p.Gly16807Ala | |
| XM_017004820.1:c.45818G>C (TTN) | XP_016860309.1:p.Gly15273Ala | |
| XM_017004821.1:c.45815G>C (TTN) | XP_016860310.1:p.Gly15272Ala | |
| XM_017004822.1:c.42857G>C (TTN) | XP_016860311.1:p.Gly14286Ala | |
| XM_017004823.1:c.24473G>C (TTN) | XP_016860312.1:p.Gly8158Ala | |
| XM_024453094.1:c.45968G>C (TTN) | XP_024308862.1:p.Gly15323Ala | |
| XM_024453095.1:c.45965G>C (TTN) | XP_024308863.1:p.Gly15322Ala | |
| XM_024453096.1:c.45398G>C (TTN) | XP_024308864.1:p.Gly15133Ala | |
| XM_024453097.1:c.42740G>C (TTN) | XP_024308865.1:p.Gly14247Ala | |
| XM_024453098.1:c.42659G>C (TTN) | XP_024308866.1:p.Gly14220Ala | |
| XM_024453099.1:c.24422G>C (TTN) | XP_024308867.1:p.Gly8141Ala | |
| XM_024453100.1:c.14276G>C (TTN) | XP_024308868.1:p.Gly4759Ala |