Linked Data
ClinVar Variation Id:
178176
ClinVar RCV Id:
RCV000154902
RCV000464472
RCV001136032
RCV001136034
RCV001136033
RCV001136035
RCV001136036
RCV002354367
RCV004534968
dbSNP Id:
rs140201636
ExAC:
2:179419846 G / C
gnomAD v2:
2-179419846-G-C
gnomAD v3:
2-178555119-G-C
gnomAD v4:
2-178555119-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178555119G>C , CM000664.2:g.178555119G>C | GRCh38 |
| NC_000002.11:g.179419846G>C , CM000664.1:g.179419846G>C | GRCh37 |
| NC_000002.10:g.179128092G>C | NCBI36 |
| NG_011618.3:g.280684C>G , LRG_391:g.280684C>G | |
| NG_051363.1:g.37293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80636C>G (TTN) | ENSP00000343764.6:p.Thr26879Arg | |
| ENST00000342175.11:c.61721C>G (TTN) | ENSP00000340554.6:p.Thr20574Arg | |
| ENST00000359218.10:c.61520C>G (TTN) | ENSP00000352154.5:p.Thr20507Arg | |
| ENST00000342175.10:c.61721C>G (TTN) | ENSP00000340554.6:p.Thr20574Arg | |
| ENST00000342992.10:c.80636C>G (TTN) | ENSP00000343764.6:p.Thr26879Arg | |
| ENST00000359218.9:c.61520C>G (TTN) | ENSP00000352154.5:p.Thr20507Arg | |
| ENST00000460472.6:c.61145C>G (TTN) | ENSP00000434586.1:p.Thr20382Arg | |
| ENST00000589042.5:c.88340C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr29447Arg | |
| ENST00000591111.5:c.83417C>G (TTN) | ENSP00000465570.1:p.Thr27806Arg | |
| ENST00000615779.4:c.83417C>G (TTN) | ENSP00000483597.1:p.Thr27806Arg | |
| NM_001256850.1:c.83417C>G (TTN) | NP_001243779.1:p.Thr27806Arg | |
| NM_001267550.2:c.88340C>G (TTN) MANE Select | NP_001254479.2:p.Thr29447Arg | |
| NM_003319.4:c.61145C>G (TTN) | NP_003310.4:p.Thr20382Arg | |
| NM_133378.4:c.80636C>G (TTN) | NP_596869.4:p.Thr26879Arg | |
| NM_133432.3:c.61520C>G (TTN) | NP_597676.3:p.Thr20507Arg | |
| NM_133437.4:c.61721C>G (TTN) | NP_597681.4:p.Thr20574Arg | |
| NR_038271.1:n.447-16181G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+12758G>C (TTN-AS1) | ||
| XM_011511729.1:c.87437C>G (TTN) | XP_011510031.1:p.Thr29146Arg | |
| XM_011511730.1:c.61331C>G (TTN) | XP_011510032.1:p.Thr20444Arg | |
| XM_011511731.1:c.61190C>G (TTN) | XP_011510033.1:p.Thr20397Arg | |
| XM_017004819.1:c.87233C>G (TTN) | XP_016860308.1:p.Thr29078Arg | |
| XM_017004820.1:c.82631C>G (TTN) | XP_016860309.1:p.Thr27544Arg | |
| XM_017004821.1:c.82628C>G (TTN) | XP_016860310.1:p.Thr27543Arg | |
| XM_017004822.1:c.79670C>G (TTN) | XP_016860311.1:p.Thr26557Arg | |
| XM_017004823.1:c.61286C>G (TTN) | XP_016860312.1:p.Thr20429Arg | |
| XM_024453094.1:c.82781C>G (TTN) | XP_024308862.1:p.Thr27594Arg | |
| XM_024453095.1:c.82778C>G (TTN) | XP_024308863.1:p.Thr27593Arg | |
| XM_024453096.1:c.82211C>G (TTN) | XP_024308864.1:p.Thr27404Arg | |
| XM_024453097.1:c.79553C>G (TTN) | XP_024308865.1:p.Thr26518Arg | |
| XM_024453098.1:c.79472C>G (TTN) | XP_024308866.1:p.Thr26491Arg | |
| XM_024453099.1:c.61235C>G (TTN) | XP_024308867.1:p.Thr20412Arg | |
| XM_024453100.1:c.51089C>G (TTN) | XP_024308868.1:p.Thr17030Arg |