Linked Data
ClinVar Variation Id:
405023
dbSNP Id:
rs142791877
ExAC:
2:179457603 C / T
gnomAD v2:
2-179457603-C-T
gnomAD v3:
2-178592876-C-T
gnomAD v4:
2-178592876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592876C>T , CM000664.2:g.178592876C>T | GRCh38 |
| NC_000002.11:g.179457603C>T , CM000664.1:g.179457603C>T | GRCh37 |
| NC_000002.10:g.179165849C>T | NCBI36 |
| NG_011618.3:g.242927G>A , LRG_391:g.242927G>A | |
| NG_051363.1:g.75050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51539G>A (TTN) | ENSP00000343764.6:p.Arg17180Gln | |
| ENST00000342175.11:c.32624G>A (TTN) | ENSP00000340554.6:p.Arg10875Gln | |
| ENST00000359218.10:c.32423G>A (TTN) | ENSP00000352154.5:p.Arg10808Gln | |
| ENST00000342175.10:c.32624G>A (TTN) | ENSP00000340554.6:p.Arg10875Gln | |
| ENST00000342992.10:c.51539G>A (TTN) | ENSP00000343764.6:p.Arg17180Gln | |
| ENST00000359218.9:c.32423G>A (TTN) | ENSP00000352154.5:p.Arg10808Gln | |
| ENST00000460472.6:c.32048G>A (TTN) | ENSP00000434586.1:p.Arg10683Gln | |
| ENST00000589042.5:c.59243G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19748Gln | |
| ENST00000591111.5:c.54320G>A (TTN) | ENSP00000465570.1:p.Arg18107Gln | |
| ENST00000615779.4:c.54320G>A (TTN) | ENSP00000483597.1:p.Arg18107Gln | |
| NM_001256850.1:c.54320G>A (TTN) | NP_001243779.1:p.Arg18107Gln | |
| NM_001267550.2:c.59243G>A (TTN) MANE Select | NP_001254479.2:p.Arg19748Gln | |
| NM_003319.4:c.32048G>A (TTN) | NP_003310.4:p.Arg10683Gln | |
| NM_133378.4:c.51539G>A (TTN) | NP_596869.4:p.Arg17180Gln | |
| NM_133432.3:c.32423G>A (TTN) | NP_597676.3:p.Arg10808Gln | |
| NM_133437.4:c.32624G>A (TTN) | NP_597681.4:p.Arg10875Gln | |
| NR_038271.1:n.597-4720C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1562C>T (TTN-AS1) | ||
| XM_011511729.1:c.58340G>A (TTN) | XP_011510031.1:p.Arg19447Gln | |
| XM_011511730.1:c.32234G>A (TTN) | XP_011510032.1:p.Arg10745Gln | |
| XM_011511731.1:c.32093G>A (TTN) | XP_011510033.1:p.Arg10698Gln | |
| XM_017004819.1:c.58136G>A (TTN) | XP_016860308.1:p.Arg19379Gln | |
| XM_017004820.1:c.53534G>A (TTN) | XP_016860309.1:p.Arg17845Gln | |
| XM_017004821.1:c.53531G>A (TTN) | XP_016860310.1:p.Arg17844Gln | |
| XM_017004822.1:c.50573G>A (TTN) | XP_016860311.1:p.Arg16858Gln | |
| XM_017004823.1:c.32189G>A (TTN) | XP_016860312.1:p.Arg10730Gln | |
| XM_024453094.1:c.53684G>A (TTN) | XP_024308862.1:p.Arg17895Gln | |
| XM_024453095.1:c.53681G>A (TTN) | XP_024308863.1:p.Arg17894Gln | |
| XM_024453096.1:c.53114G>A (TTN) | XP_024308864.1:p.Arg17705Gln | |
| XM_024453097.1:c.50456G>A (TTN) | XP_024308865.1:p.Arg16819Gln | |
| XM_024453098.1:c.50375G>A (TTN) | XP_024308866.1:p.Arg16792Gln | |
| XM_024453099.1:c.32138G>A (TTN) | XP_024308867.1:p.Arg10713Gln | |
| XM_024453100.1:c.21992G>A (TTN) | XP_024308868.1:p.Arg7331Gln |