Linked Data
ClinVar Variation Id:
202684
ClinVar RCV Id:
RCV000225833
RCV001130075
RCV001130077
RCV001130074
RCV001130076
RCV001135104
RCV002444751
RCV001704902
dbSNP Id:
rs752204728
ExAC:
2:179476287 T / G
gnomAD v2:
2-179476287-T-G
gnomAD v3:
2-178611560-T-G
gnomAD v4:
2-178611560-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611560T>G , CM000664.2:g.178611560T>G | GRCh38 |
| NC_000002.11:g.179476287T>G , CM000664.1:g.179476287T>G | GRCh37 |
| NC_000002.10:g.179184532T>G | NCBI36 |
| NG_011618.3:g.224243A>C , LRG_391:g.224243A>C | |
| NG_051363.1:g.93734T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42965A>C (TTN) | ENSP00000343764.6:p.Glu14322Ala | |
| ENST00000342175.11:c.24050A>C (TTN) | ENSP00000340554.6:p.Glu8017Ala | |
| ENST00000359218.10:c.23849A>C (TTN) | ENSP00000352154.5:p.Glu7950Ala | |
| ENST00000342175.10:c.24050A>C (TTN) | ENSP00000340554.6:p.Glu8017Ala | |
| ENST00000342992.10:c.42965A>C (TTN) | ENSP00000343764.6:p.Glu14322Ala | |
| ENST00000359218.9:c.23849A>C (TTN) | ENSP00000352154.5:p.Glu7950Ala | |
| ENST00000460472.6:c.23474A>C (TTN) | ENSP00000434586.1:p.Glu7825Ala | |
| ENST00000589042.5:c.50669A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu16890Ala | |
| ENST00000591111.5:c.45746A>C (TTN) | ENSP00000465570.1:p.Glu15249Ala | |
| ENST00000615779.4:c.45746A>C (TTN) | ENSP00000483597.1:p.Glu15249Ala | |
| NM_001256850.1:c.45746A>C (TTN) | NP_001243779.1:p.Glu15249Ala | |
| NM_001267550.2:c.50669A>C (TTN) MANE Select | NP_001254479.2:p.Glu16890Ala | |
| NM_003319.4:c.23474A>C (TTN) | NP_003310.4:p.Glu7825Ala | |
| NM_133378.4:c.42965A>C (TTN) | NP_596869.4:p.Glu14322Ala | |
| NM_133432.3:c.23849A>C (TTN) | NP_597676.3:p.Glu7950Ala | |
| NM_133437.4:c.24050A>C (TTN) | NP_597681.4:p.Glu8017Ala | |
| NR_038271.1:n.783-2475T>G (TTN-AS1) | ||
| XM_011511729.1:c.49766A>C (TTN) | XP_011510031.1:p.Glu16589Ala | |
| XM_011511730.1:c.23660A>C (TTN) | XP_011510032.1:p.Glu7887Ala | |
| XM_011511731.1:c.23519A>C (TTN) | XP_011510033.1:p.Glu7840Ala | |
| XM_017004819.1:c.49562A>C (TTN) | XP_016860308.1:p.Glu16521Ala | |
| XM_017004820.1:c.44960A>C (TTN) | XP_016860309.1:p.Glu14987Ala | |
| XM_017004821.1:c.44957A>C (TTN) | XP_016860310.1:p.Glu14986Ala | |
| XM_017004822.1:c.41999A>C (TTN) | XP_016860311.1:p.Glu14000Ala | |
| XM_017004823.1:c.23615A>C (TTN) | XP_016860312.1:p.Glu7872Ala | |
| XM_024453094.1:c.45110A>C (TTN) | XP_024308862.1:p.Glu15037Ala | |
| XM_024453095.1:c.45107A>C (TTN) | XP_024308863.1:p.Glu15036Ala | |
| XM_024453096.1:c.44540A>C (TTN) | XP_024308864.1:p.Glu14847Ala | |
| XM_024453097.1:c.41882A>C (TTN) | XP_024308865.1:p.Glu13961Ala | |
| XM_024453098.1:c.41801A>C (TTN) | XP_024308866.1:p.Glu13934Ala | |
| XM_024453099.1:c.23564A>C (TTN) | XP_024308867.1:p.Glu7855Ala | |
| XM_024453100.1:c.13418A>C (TTN) | XP_024308868.1:p.Glu4473Ala |