Linked Data
dbSNP Id:
rs766165870
ExAC:
2:179472445 T / C
gnomAD v2:
2-179472445-T-C
gnomAD v3:
2-178607718-T-C
gnomAD v4:
2-178607718-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607718T>C , CM000664.2:g.178607718T>C | GRCh38 |
| NC_000002.11:g.179472445T>C , CM000664.1:g.179472445T>C | GRCh37 |
| NC_000002.10:g.179180690T>C | NCBI36 |
| NG_011618.3:g.228085A>G , LRG_391:g.228085A>G | |
| NG_051363.1:g.89892T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45299-33A>G (TTN) | ENSP00000343764.6:n.45299-33A>G | |
| ENST00000342175.11:c.26384-33A>G (TTN) | ENSP00000340554.6:n.26384-33A>G | |
| ENST00000359218.10:c.26183-33A>G (TTN) | ENSP00000352154.5:n.26183-33A>G | |
| ENST00000342175.10:c.26384-33A>G (TTN) | ENSP00000340554.6:n.26384-33A>G | |
| ENST00000342992.10:c.45299-33A>G (TTN) | ENSP00000343764.6:n.45299-33A>G | |
| ENST00000359218.9:c.26183-33A>G (TTN) | ENSP00000352154.5:n.26183-33A>G | |
| ENST00000460472.6:c.25808-33A>G (TTN) | ENSP00000434586.1:n.25808-33A>G | |
| ENST00000589042.5:c.53003-33A>G (TTN) MANE Select | ENSP00000467141.1:n.53003-33A>G | |
| ENST00000591111.5:c.48080-33A>G (TTN) | ENSP00000465570.1:n.48080-33A>G | |
| ENST00000615779.4:c.48080-33A>G (TTN) | ENSP00000483597.1:n.48080-33A>G | |
| NM_001256850.1:c.48080-33A>G (TTN) | NP_001243779.1:n.48080-33A>G | |
| NM_001267550.2:c.53003-33A>G (TTN) MANE Select | NP_001254479.2:n.53003-33A>G | |
| NM_003319.4:c.25808-33A>G (TTN) | NP_003310.4:n.25808-33A>G | |
| NM_133378.4:c.45299-33A>G (TTN) | NP_596869.4:n.45299-33A>G | |
| NM_133432.3:c.26183-33A>G (TTN) | NP_597676.3:n.26183-33A>G | |
| NM_133437.4:c.26384-33A>G (TTN) | NP_597681.4:n.26384-33A>G | |
| NR_038271.1:n.683-449T>C (TTN-AS1) | ||
| XM_011511729.1:c.52100-33A>G (TTN) | XP_011510031.1:n.52100-33A>G | |
| XM_011511730.1:c.25994-33A>G (TTN) | XP_011510032.1:n.25994-33A>G | |
| XM_011511731.1:c.25853-33A>G (TTN) | XP_011510033.1:n.25853-33A>G | |
| XM_017004819.1:c.51896-33A>G (TTN) | XP_016860308.1:n.51896-33A>G | |
| XM_017004820.1:c.47294-33A>G (TTN) | XP_016860309.1:n.47294-33A>G | |
| XM_017004821.1:c.47291-33A>G (TTN) | XP_016860310.1:n.47291-33A>G | |
| XM_017004822.1:c.44333-33A>G (TTN) | XP_016860311.1:n.44333-33A>G | |
| XM_017004823.1:c.25949-33A>G (TTN) | XP_016860312.1:n.25949-33A>G | |
| XM_024453094.1:c.47444-33A>G (TTN) | XP_024308862.1:n.47444-33A>G | |
| XM_024453095.1:c.47441-33A>G (TTN) | XP_024308863.1:n.47441-33A>G | |
| XM_024453096.1:c.46874-33A>G (TTN) | XP_024308864.1:n.46874-33A>G | |
| XM_024453097.1:c.44216-33A>G (TTN) | XP_024308865.1:n.44216-33A>G | |
| XM_024453098.1:c.44135-33A>G (TTN) | XP_024308866.1:n.44135-33A>G | |
| XM_024453099.1:c.25898-33A>G (TTN) | XP_024308867.1:n.25898-33A>G | |
| XM_024453100.1:c.15752-33A>G (TTN) | XP_024308868.1:n.15752-33A>G |