Linked Data
ClinVar Variation Id:
180070
ClinVar RCV Id:
RCV000156873
RCV000727085
RCV001130618
RCV001130620
RCV001130619
RCV001130621
RCV001130622
dbSNP Id:
rs535151633
ExAC:
2:179414570 T / C
gnomAD v2:
2-179414570-T-C
gnomAD v3:
2-178549843-T-C
gnomAD v4:
2-178549843-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549843T>C , CM000664.2:g.178549843T>C | GRCh38 |
| NC_000002.11:g.179414570T>C , CM000664.1:g.179414570T>C | GRCh37 |
| NC_000002.10:g.179122816T>C | NCBI36 |
| NG_011618.3:g.285960A>G , LRG_391:g.285960A>G | |
| NG_051363.1:g.32017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84175A>G (TTN) | ENSP00000343764.6:p.Ile28059Val | |
| ENST00000342175.11:c.65260A>G (TTN) | ENSP00000340554.6:p.Ile21754Val | |
| ENST00000359218.10:c.65059A>G (TTN) | ENSP00000352154.5:p.Ile21687Val | |
| ENST00000342175.10:c.65260A>G (TTN) | ENSP00000340554.6:p.Ile21754Val | |
| ENST00000342992.10:c.84175A>G (TTN) | ENSP00000343764.6:p.Ile28059Val | |
| ENST00000359218.9:c.65059A>G (TTN) | ENSP00000352154.5:p.Ile21687Val | |
| ENST00000460472.6:c.64684A>G (TTN) | ENSP00000434586.1:p.Ile21562Val | |
| ENST00000589042.5:c.91879A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile30627Val | |
| ENST00000591111.5:c.86956A>G (TTN) | ENSP00000465570.1:p.Ile28986Val | |
| ENST00000615779.4:c.86956A>G (TTN) | ENSP00000483597.1:p.Ile28986Val | |
| NM_001256850.1:c.86956A>G (TTN) | NP_001243779.1:p.Ile28986Val | |
| NM_001267550.2:c.91879A>G (TTN) MANE Select | NP_001254479.2:p.Ile30627Val | |
| NM_003319.4:c.64684A>G (TTN) | NP_003310.4:p.Ile21562Val | |
| NM_133378.4:c.84175A>G (TTN) | NP_596869.4:p.Ile28059Val | |
| NM_133432.3:c.65059A>G (TTN) | NP_597676.3:p.Ile21687Val | |
| NM_133437.4:c.65260A>G (TTN) | NP_597681.4:p.Ile21754Val | |
| NR_038271.1:n.447-21457T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+7482T>C (TTN-AS1) | ||
| XM_011511729.1:c.90976A>G (TTN) | XP_011510031.1:p.Ile30326Val | |
| XM_011511730.1:c.64870A>G (TTN) | XP_011510032.1:p.Ile21624Val | |
| XM_011511731.1:c.64729A>G (TTN) | XP_011510033.1:p.Ile21577Val | |
| XM_017004819.1:c.90772A>G (TTN) | XP_016860308.1:p.Ile30258Val | |
| XM_017004820.1:c.86170A>G (TTN) | XP_016860309.1:p.Ile28724Val | |
| XM_017004821.1:c.86167A>G (TTN) | XP_016860310.1:p.Ile28723Val | |
| XM_017004822.1:c.83209A>G (TTN) | XP_016860311.1:p.Ile27737Val | |
| XM_017004823.1:c.64825A>G (TTN) | XP_016860312.1:p.Ile21609Val | |
| XM_024453094.1:c.86320A>G (TTN) | XP_024308862.1:p.Ile28774Val | |
| XM_024453095.1:c.86317A>G (TTN) | XP_024308863.1:p.Ile28773Val | |
| XM_024453096.1:c.85750A>G (TTN) | XP_024308864.1:p.Ile28584Val | |
| XM_024453097.1:c.83092A>G (TTN) | XP_024308865.1:p.Ile27698Val | |
| XM_024453098.1:c.83011A>G (TTN) | XP_024308866.1:p.Ile27671Val | |
| XM_024453099.1:c.64774A>G (TTN) | XP_024308867.1:p.Ile21592Val | |
| XM_024453100.1:c.54628A>G (TTN) | XP_024308868.1:p.Ile18210Val |