Linked Data
ClinVar Variation Id:
284092
ClinVar RCV Id:
RCV000292975
RCV000362867
RCV000352547
RCV000301078
RCV000397609
RCV000643214
RCV002338838
RCV001798772
RCV000400050
dbSNP Id:
rs778290450
ExAC:
2:179432488 A / T
gnomAD v2:
2-179432488-A-T
gnomAD v3:
2-178567761-A-T
gnomAD v4:
2-178567761-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567761A>T , CM000664.2:g.178567761A>T | GRCh38 |
| NC_000002.11:g.179432488A>T , CM000664.1:g.179432488A>T | GRCh37 |
| NC_000002.10:g.179140734A>T | NCBI36 |
| NG_011618.3:g.268042T>A , LRG_391:g.268042T>A | |
| NG_051363.1:g.49935A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70667T>A (TTN) | ENSP00000343764.6:p.Ile23556Asn | |
| ENST00000342175.11:c.51752T>A (TTN) | ENSP00000340554.6:p.Ile17251Asn | |
| ENST00000359218.10:c.51551T>A (TTN) | ENSP00000352154.5:p.Ile17184Asn | |
| ENST00000342175.10:c.51752T>A (TTN) | ENSP00000340554.6:p.Ile17251Asn | |
| ENST00000342992.10:c.70667T>A (TTN) | ENSP00000343764.6:p.Ile23556Asn | |
| ENST00000359218.9:c.51551T>A (TTN) | ENSP00000352154.5:p.Ile17184Asn | |
| ENST00000460472.6:c.51176T>A (TTN) | ENSP00000434586.1:p.Ile17059Asn | |
| ENST00000589042.5:c.78371T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile26124Asn | |
| ENST00000591111.5:c.73448T>A (TTN) | ENSP00000465570.1:p.Ile24483Asn | |
| ENST00000615779.4:c.73448T>A (TTN) | ENSP00000483597.1:p.Ile24483Asn | |
| NM_001256850.1:c.73448T>A (TTN) | NP_001243779.1:p.Ile24483Asn | |
| NM_001267550.2:c.78371T>A (TTN) MANE Select | NP_001254479.2:p.Ile26124Asn | |
| NM_003319.4:c.51176T>A (TTN) | NP_003310.4:p.Ile17059Asn | |
| NM_133378.4:c.70667T>A (TTN) | NP_596869.4:p.Ile23556Asn | |
| NM_133432.3:c.51551T>A (TTN) | NP_597676.3:p.Ile17184Asn | |
| NM_133437.4:c.51752T>A (TTN) | NP_597681.4:p.Ile17251Asn | |
| NR_038271.1:n.447-3539A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14811A>T (TTN-AS1) | ||
| XM_011511729.1:c.77468T>A (TTN) | XP_011510031.1:p.Ile25823Asn | |
| XM_011511730.1:c.51362T>A (TTN) | XP_011510032.1:p.Ile17121Asn | |
| XM_011511731.1:c.51221T>A (TTN) | XP_011510033.1:p.Ile17074Asn | |
| XM_017004819.1:c.77264T>A (TTN) | XP_016860308.1:p.Ile25755Asn | |
| XM_017004820.1:c.72662T>A (TTN) | XP_016860309.1:p.Ile24221Asn | |
| XM_017004821.1:c.72659T>A (TTN) | XP_016860310.1:p.Ile24220Asn | |
| XM_017004822.1:c.69701T>A (TTN) | XP_016860311.1:p.Ile23234Asn | |
| XM_017004823.1:c.51317T>A (TTN) | XP_016860312.1:p.Ile17106Asn | |
| XM_024453094.1:c.72812T>A (TTN) | XP_024308862.1:p.Ile24271Asn | |
| XM_024453095.1:c.72809T>A (TTN) | XP_024308863.1:p.Ile24270Asn | |
| XM_024453096.1:c.72242T>A (TTN) | XP_024308864.1:p.Ile24081Asn | |
| XM_024453097.1:c.69584T>A (TTN) | XP_024308865.1:p.Ile23195Asn | |
| XM_024453098.1:c.69503T>A (TTN) | XP_024308866.1:p.Ile23168Asn | |
| XM_024453099.1:c.51266T>A (TTN) | XP_024308867.1:p.Ile17089Asn | |
| XM_024453100.1:c.41120T>A (TTN) | XP_024308868.1:p.Ile13707Asn |