Linked Data
ClinVar Variation Id:
405103
ClinVar RCV Id:
RCV000467853
dbSNP Id:
rs1060500560
gnomAD v2:
2-179395317-T-C
gnomAD v3:
2-178530590-T-C
gnomAD v4:
2-178530590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530590T>C , CM000664.2:g.178530590T>C | GRCh38 |
| NC_000002.11:g.179395317T>C , CM000664.1:g.179395317T>C | GRCh37 |
| NC_000002.10:g.179103563T>C | NCBI36 |
| NG_011618.3:g.305213A>G , LRG_391:g.305213A>G | |
| NG_051363.1:g.12764T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98321A>G (TTN) | ENSP00000343764.6:p.Tyr32774Cys | |
| ENST00000342175.11:c.79406A>G (TTN) | ENSP00000340554.6:p.Tyr26469Cys | |
| ENST00000359218.10:c.79205A>G (TTN) | ENSP00000352154.5:p.Tyr26402Cys | |
| ENST00000342175.10:c.79406A>G (TTN) | ENSP00000340554.6:p.Tyr26469Cys | |
| ENST00000342992.10:c.98321A>G (TTN) | ENSP00000343764.6:p.Tyr32774Cys | |
| ENST00000359218.9:c.79205A>G (TTN) | ENSP00000352154.5:p.Tyr26402Cys | |
| ENST00000460472.6:c.78830A>G (TTN) | ENSP00000434586.1:p.Tyr26277Cys | |
| ENST00000589042.5:c.106025A>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr35342Cys | |
| ENST00000591111.5:c.101102A>G (TTN) | ENSP00000465570.1:p.Tyr33701Cys | |
| ENST00000615779.4:c.101102A>G (TTN) | ENSP00000483597.1:p.Tyr33701Cys | |
| NM_001256850.1:c.101102A>G (TTN) | NP_001243779.1:p.Tyr33701Cys | |
| NM_001267550.2:c.106025A>G (TTN) MANE Select | NP_001254479.2:p.Tyr35342Cys | |
| NM_003319.4:c.78830A>G (TTN) | NP_003310.4:p.Tyr26277Cys | |
| NM_133378.4:c.98321A>G (TTN) | NP_596869.4:p.Tyr32774Cys | |
| NM_133432.3:c.79205A>G (TTN) | NP_597676.3:p.Tyr26402Cys | |
| NM_133437.4:c.79406A>G (TTN) | NP_597681.4:p.Tyr26469Cys | |
| NR_038271.1:n.446+6954T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5142T>C (TTN-AS1) | ||
| XM_011511729.1:c.105122A>G (TTN) | XP_011510031.1:p.Tyr35041Cys | |
| XM_011511730.1:c.79016A>G (TTN) | XP_011510032.1:p.Tyr26339Cys | |
| XM_011511731.1:c.78875A>G (TTN) | XP_011510033.1:p.Tyr26292Cys | |
| XM_017004819.1:c.104918A>G (TTN) | XP_016860308.1:p.Tyr34973Cys | |
| XM_017004820.1:c.100316A>G (TTN) | XP_016860309.1:p.Tyr33439Cys | |
| XM_017004821.1:c.100313A>G (TTN) | XP_016860310.1:p.Tyr33438Cys | |
| XM_017004822.1:c.97355A>G (TTN) | XP_016860311.1:p.Tyr32452Cys | |
| XM_017004823.1:c.78971A>G (TTN) | XP_016860312.1:p.Tyr26324Cys | |
| XM_024453094.1:c.100466A>G (TTN) | XP_024308862.1:p.Tyr33489Cys | |
| XM_024453095.1:c.100463A>G (TTN) | XP_024308863.1:p.Tyr33488Cys | |
| XM_024453096.1:c.99896A>G (TTN) | XP_024308864.1:p.Tyr33299Cys | |
| XM_024453097.1:c.97238A>G (TTN) | XP_024308865.1:p.Tyr32413Cys | |
| XM_024453098.1:c.97157A>G (TTN) | XP_024308866.1:p.Tyr32386Cys | |
| XM_024453099.1:c.78920A>G (TTN) | XP_024308867.1:p.Tyr26307Cys | |
| XM_024453100.1:c.68774A>G (TTN) | XP_024308868.1:p.Tyr22925Cys |