Linked Data
ClinVar Variation Id:
47408
dbSNP Id:
rs145373396
ExAC:
2:179428756 T / C
gnomAD v2:
2-179428756-T-C
gnomAD v3:
2-178564029-T-C
gnomAD v4:
2-178564029-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564029T>C , CM000664.2:g.178564029T>C | GRCh38 |
| NC_000002.11:g.179428756T>C , CM000664.1:g.179428756T>C | GRCh37 |
| NC_000002.10:g.179137002T>C | NCBI36 |
| NG_011618.3:g.271774A>G , LRG_391:g.271774A>G | |
| NG_051363.1:g.46203T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74399A>G (TTN) | ENSP00000343764.6:p.Asp24800Gly | |
| ENST00000342175.11:c.55484A>G (TTN) | ENSP00000340554.6:p.Asp18495Gly | |
| ENST00000359218.10:c.55283A>G (TTN) | ENSP00000352154.5:p.Asp18428Gly | |
| ENST00000342175.10:c.55484A>G (TTN) | ENSP00000340554.6:p.Asp18495Gly | |
| ENST00000342992.10:c.74399A>G (TTN) | ENSP00000343764.6:p.Asp24800Gly | |
| ENST00000359218.9:c.55283A>G (TTN) | ENSP00000352154.5:p.Asp18428Gly | |
| ENST00000460472.6:c.54908A>G (TTN) | ENSP00000434586.1:p.Asp18303Gly | |
| ENST00000589042.5:c.82103A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp27368Gly | |
| ENST00000591111.5:c.77180A>G (TTN) | ENSP00000465570.1:p.Asp25727Gly | |
| ENST00000615779.4:c.77180A>G (TTN) | ENSP00000483597.1:p.Asp25727Gly | |
| NM_001256850.1:c.77180A>G (TTN) | NP_001243779.1:p.Asp25727Gly | |
| NM_001267550.2:c.82103A>G (TTN) MANE Select | NP_001254479.2:p.Asp27368Gly | |
| NM_003319.4:c.54908A>G (TTN) | NP_003310.4:p.Asp18303Gly | |
| NM_133378.4:c.74399A>G (TTN) | NP_596869.4:p.Asp24800Gly | |
| NM_133432.3:c.55283A>G (TTN) | NP_597676.3:p.Asp18428Gly | |
| NM_133437.4:c.55484A>G (TTN) | NP_597681.4:p.Asp18495Gly | |
| NR_038271.1:n.447-7271T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-18543T>C (TTN-AS1) | ||
| XM_011511729.1:c.81200A>G (TTN) | XP_011510031.1:p.Asp27067Gly | |
| XM_011511730.1:c.55094A>G (TTN) | XP_011510032.1:p.Asp18365Gly | |
| XM_011511731.1:c.54953A>G (TTN) | XP_011510033.1:p.Asp18318Gly | |
| XM_017004819.1:c.80996A>G (TTN) | XP_016860308.1:p.Asp26999Gly | |
| XM_017004820.1:c.76394A>G (TTN) | XP_016860309.1:p.Asp25465Gly | |
| XM_017004821.1:c.76391A>G (TTN) | XP_016860310.1:p.Asp25464Gly | |
| XM_017004822.1:c.73433A>G (TTN) | XP_016860311.1:p.Asp24478Gly | |
| XM_017004823.1:c.55049A>G (TTN) | XP_016860312.1:p.Asp18350Gly | |
| XM_024453094.1:c.76544A>G (TTN) | XP_024308862.1:p.Asp25515Gly | |
| XM_024453095.1:c.76541A>G (TTN) | XP_024308863.1:p.Asp25514Gly | |
| XM_024453096.1:c.75974A>G (TTN) | XP_024308864.1:p.Asp25325Gly | |
| XM_024453097.1:c.73316A>G (TTN) | XP_024308865.1:p.Asp24439Gly | |
| XM_024453098.1:c.73235A>G (TTN) | XP_024308866.1:p.Asp24412Gly | |
| XM_024453099.1:c.54998A>G (TTN) | XP_024308867.1:p.Asp18333Gly | |
| XM_024453100.1:c.44852A>G (TTN) | XP_024308868.1:p.Asp14951Gly |