Linked Data
ClinVar Variation Id:
47714
ClinVar RCV Id:
RCV000040983
RCV000764292
RCV001129058
RCV001129059
RCV001136026
RCV001136027
RCV001136028
RCV001219380
RCV001548379
RCV002415483
dbSNP Id:
rs374405802
ExAC:
2:179393641 A / C
gnomAD v2:
2-179393641-A-C
gnomAD v3:
2-178528914-A-C
gnomAD v4:
2-178528914-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528914A>C , CM000664.2:g.178528914A>C | GRCh38 |
| NC_000002.11:g.179393641A>C , CM000664.1:g.179393641A>C | GRCh37 |
| NC_000002.10:g.179101887A>C | NCBI36 |
| NG_011618.3:g.306889T>G , LRG_391:g.306889T>G | |
| NG_051363.1:g.11088A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99133T>G (TTN) | ENSP00000343764.6:p.Ser33045Ala | |
| ENST00000342175.11:c.80218T>G (TTN) | ENSP00000340554.6:p.Ser26740Ala | |
| ENST00000359218.10:c.80017T>G (TTN) | ENSP00000352154.5:p.Ser26673Ala | |
| ENST00000342175.10:c.80218T>G (TTN) | ENSP00000340554.6:p.Ser26740Ala | |
| ENST00000342992.10:c.99133T>G (TTN) | ENSP00000343764.6:p.Ser33045Ala | |
| ENST00000359218.9:c.80017T>G (TTN) | ENSP00000352154.5:p.Ser26673Ala | |
| ENST00000460472.6:c.79642T>G (TTN) | ENSP00000434586.1:p.Ser26548Ala | |
| ENST00000589042.5:c.106837T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser35613Ala | |
| ENST00000591111.5:c.101914T>G (TTN) | ENSP00000465570.1:p.Ser33972Ala | |
| ENST00000615779.4:c.101914T>G (TTN) | ENSP00000483597.1:p.Ser33972Ala | |
| NM_001256850.1:c.101914T>G (TTN) | NP_001243779.1:p.Ser33972Ala | |
| NM_001267550.2:c.106837T>G (TTN) MANE Select | NP_001254479.2:p.Ser35613Ala | |
| NM_003319.4:c.79642T>G (TTN) | NP_003310.4:p.Ser26548Ala | |
| NM_133378.4:c.99133T>G (TTN) | NP_596869.4:p.Ser33045Ala | |
| NM_133432.3:c.80017T>G (TTN) | NP_597676.3:p.Ser26673Ala | |
| NM_133437.4:c.80218T>G (TTN) | NP_597681.4:p.Ser26740Ala | |
| NR_038271.1:n.446+5278A>C (TTN-AS1) | ||
| NR_038272.1:n.219+5278A>C (TTN-AS1) | ||
| XM_011511729.1:c.105934T>G (TTN) | XP_011510031.1:p.Ser35312Ala | |
| XM_011511730.1:c.79828T>G (TTN) | XP_011510032.1:p.Ser26610Ala | |
| XM_011511731.1:c.79687T>G (TTN) | XP_011510033.1:p.Ser26563Ala | |
| XM_017004819.1:c.105730T>G (TTN) | XP_016860308.1:p.Ser35244Ala | |
| XM_017004820.1:c.101128T>G (TTN) | XP_016860309.1:p.Ser33710Ala | |
| XM_017004821.1:c.101125T>G (TTN) | XP_016860310.1:p.Ser33709Ala | |
| XM_017004822.1:c.98167T>G (TTN) | XP_016860311.1:p.Ser32723Ala | |
| XM_017004823.1:c.79783T>G (TTN) | XP_016860312.1:p.Ser26595Ala | |
| XM_024453094.1:c.101278T>G (TTN) | XP_024308862.1:p.Ser33760Ala | |
| XM_024453095.1:c.101275T>G (TTN) | XP_024308863.1:p.Ser33759Ala | |
| XM_024453096.1:c.100708T>G (TTN) | XP_024308864.1:p.Ser33570Ala | |
| XM_024453097.1:c.98050T>G (TTN) | XP_024308865.1:p.Ser32684Ala | |
| XM_024453098.1:c.97969T>G (TTN) | XP_024308866.1:p.Ser32657Ala | |
| XM_024453099.1:c.79732T>G (TTN) | XP_024308867.1:p.Ser26578Ala | |
| XM_024453100.1:c.69586T>G (TTN) | XP_024308868.1:p.Ser23196Ala |