Linked Data
ClinVar Variation Id:
500174
dbSNP Id:
rs771385738
ExAC:
2:179407660 A / G
gnomAD v2:
2-179407660-A-G
gnomAD v3:
2-178542933-A-G
gnomAD v4:
2-178542933-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542933A>G , CM000664.2:g.178542933A>G | GRCh38 |
| NC_000002.11:g.179407660A>G , CM000664.1:g.179407660A>G | GRCh37 |
| NC_000002.10:g.179115906A>G | NCBI36 |
| NG_011618.3:g.292870T>C , LRG_391:g.292870T>C | |
| NG_051363.1:g.25107A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89217T>C (TTN) | ENSP00000343764.6:p.Asp29739= | |
| ENST00000342175.11:c.70302T>C (TTN) | ENSP00000340554.6:p.Asp23434= | |
| ENST00000359218.10:c.70101T>C (TTN) | ENSP00000352154.5:p.Asp23367= | |
| ENST00000342175.10:c.70302T>C (TTN) | ENSP00000340554.6:p.Asp23434= | |
| ENST00000342992.10:c.89217T>C (TTN) | ENSP00000343764.6:p.Asp29739= | |
| ENST00000359218.9:c.70101T>C (TTN) | ENSP00000352154.5:p.Asp23367= | |
| ENST00000460472.6:c.69726T>C (TTN) | ENSP00000434586.1:p.Asp23242= | |
| ENST00000589042.5:c.96921T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp32307= | |
| ENST00000591111.5:c.91998T>C (TTN) | ENSP00000465570.1:p.Asp30666= | |
| ENST00000615779.4:c.91998T>C (TTN) | ENSP00000483597.1:p.Asp30666= | |
| NM_001256850.1:c.91998T>C (TTN) | NP_001243779.1:p.Asp30666= | |
| NM_001267550.2:c.96921T>C (TTN) MANE Select | NP_001254479.2:p.Asp32307= | |
| NM_003319.4:c.69726T>C (TTN) | NP_003310.4:p.Asp23242= | |
| NM_133378.4:c.89217T>C (TTN) | NP_596869.4:p.Asp29739= | |
| NM_133432.3:c.70101T>C (TTN) | NP_597676.3:p.Asp23367= | |
| NM_133437.4:c.70302T>C (TTN) | NP_597681.4:p.Asp23434= | |
| NR_038271.1:n.446+19297A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+572A>G (TTN-AS1) | ||
| XM_011511729.1:c.96018T>C (TTN) | XP_011510031.1:p.Asp32006= | |
| XM_011511730.1:c.69912T>C (TTN) | XP_011510032.1:p.Asp23304= | |
| XM_011511731.1:c.69771T>C (TTN) | XP_011510033.1:p.Asp23257= | |
| XM_017004819.1:c.95814T>C (TTN) | XP_016860308.1:p.Asp31938= | |
| XM_017004820.1:c.91212T>C (TTN) | XP_016860309.1:p.Asp30404= | |
| XM_017004821.1:c.91209T>C (TTN) | XP_016860310.1:p.Asp30403= | |
| XM_017004822.1:c.88251T>C (TTN) | XP_016860311.1:p.Asp29417= | |
| XM_017004823.1:c.69867T>C (TTN) | XP_016860312.1:p.Asp23289= | |
| XM_024453094.1:c.91362T>C (TTN) | XP_024308862.1:p.Asp30454= | |
| XM_024453095.1:c.91359T>C (TTN) | XP_024308863.1:p.Asp30453= | |
| XM_024453096.1:c.90792T>C (TTN) | XP_024308864.1:p.Asp30264= | |
| XM_024453097.1:c.88134T>C (TTN) | XP_024308865.1:p.Asp29378= | |
| XM_024453098.1:c.88053T>C (TTN) | XP_024308866.1:p.Asp29351= | |
| XM_024453099.1:c.69816T>C (TTN) | XP_024308867.1:p.Asp23272= | |
| XM_024453100.1:c.59670T>C (TTN) | XP_024308868.1:p.Asp19890= |