Linked Data
ClinVar Variation Id:
165961
ClinVar RCV Id:
RCV000152293
RCV000309495
RCV000347987
RCV000370125
RCV000727304
RCV001081455
RCV000308399
RCV002433657
RCV000397382
dbSNP Id:
rs553313488
ExAC:
2:179464117 T / C
gnomAD v2:
2-179464117-T-C
gnomAD v3:
2-178599390-T-C
gnomAD v4:
2-178599390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599390T>C , CM000664.2:g.178599390T>C | GRCh38 |
| NC_000002.11:g.179464117T>C , CM000664.1:g.179464117T>C | GRCh37 |
| NC_000002.10:g.179172362T>C | NCBI36 |
| NG_011618.3:g.236413A>G , LRG_391:g.236413A>G | |
| NG_051363.1:g.81564T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48699A>G (TTN) | ENSP00000343764.6:p.Gln16233= | |
| ENST00000342175.11:c.29784A>G (TTN) | ENSP00000340554.6:p.Gln9928= | |
| ENST00000359218.10:c.29583A>G (TTN) | ENSP00000352154.5:p.Gln9861= | |
| ENST00000342175.10:c.29784A>G (TTN) | ENSP00000340554.6:p.Gln9928= | |
| ENST00000342992.10:c.48699A>G (TTN) | ENSP00000343764.6:p.Gln16233= | |
| ENST00000359218.9:c.29583A>G (TTN) | ENSP00000352154.5:p.Gln9861= | |
| ENST00000460472.6:c.29208A>G (TTN) | ENSP00000434586.1:p.Gln9736= | |
| ENST00000589042.5:c.56403A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln18801= | |
| ENST00000591111.5:c.51480A>G (TTN) | ENSP00000465570.1:p.Gln17160= | |
| ENST00000615779.4:c.51480A>G (TTN) | ENSP00000483597.1:p.Gln17160= | |
| NM_001256850.1:c.51480A>G (TTN) | NP_001243779.1:p.Gln17160= | |
| NM_001267550.2:c.56403A>G (TTN) MANE Select | NP_001254479.2:p.Gln18801= | |
| NM_003319.4:c.29208A>G (TTN) | NP_003310.4:p.Gln9736= | |
| NM_133378.4:c.48699A>G (TTN) | NP_596869.4:p.Gln16233= | |
| NM_133432.3:c.29583A>G (TTN) | NP_597676.3:p.Gln9861= | |
| NM_133437.4:c.29784A>G (TTN) | NP_597681.4:p.Gln9928= | |
| NR_038271.1:n.682+1709T>C (TTN-AS1) | ||
| NR_038272.1:n.3569-204T>C (TTN-AS1) | ||
| XM_011511729.1:c.55500A>G (TTN) | XP_011510031.1:p.Gln18500= | |
| XM_011511730.1:c.29394A>G (TTN) | XP_011510032.1:p.Gln9798= | |
| XM_011511731.1:c.29253A>G (TTN) | XP_011510033.1:p.Gln9751= | |
| XM_017004819.1:c.55296A>G (TTN) | XP_016860308.1:p.Gln18432= | |
| XM_017004820.1:c.50694A>G (TTN) | XP_016860309.1:p.Gln16898= | |
| XM_017004821.1:c.50691A>G (TTN) | XP_016860310.1:p.Gln16897= | |
| XM_017004822.1:c.47733A>G (TTN) | XP_016860311.1:p.Gln15911= | |
| XM_017004823.1:c.29349A>G (TTN) | XP_016860312.1:p.Gln9783= | |
| XM_024453094.1:c.50844A>G (TTN) | XP_024308862.1:p.Gln16948= | |
| XM_024453095.1:c.50841A>G (TTN) | XP_024308863.1:p.Gln16947= | |
| XM_024453096.1:c.50274A>G (TTN) | XP_024308864.1:p.Gln16758= | |
| XM_024453097.1:c.47616A>G (TTN) | XP_024308865.1:p.Gln15872= | |
| XM_024453098.1:c.47535A>G (TTN) | XP_024308866.1:p.Gln15845= | |
| XM_024453099.1:c.29298A>G (TTN) | XP_024308867.1:p.Gln9766= | |
| XM_024453100.1:c.19152A>G (TTN) | XP_024308868.1:p.Gln6384= |