Linked Data
ClinVar Variation Id:
192150
ClinVar RCV Id:
RCV000172630
RCV000768911
RCV001128964
RCV001135948
RCV001088746
RCV001128965
RCV001135949
RCV001128966
RCV002345597
dbSNP Id:
rs200697681
ExAC:
2:179428967 C / T
gnomAD v2:
2-179428967-C-T
gnomAD v3:
2-178564240-C-T
gnomAD v4:
2-178564240-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564240C>T , CM000664.2:g.178564240C>T | GRCh38 |
| NC_000002.11:g.179428967C>T , CM000664.1:g.179428967C>T | GRCh37 |
| NC_000002.10:g.179137213C>T | NCBI36 |
| NG_011618.3:g.271563G>A , LRG_391:g.271563G>A | |
| NG_051363.1:g.46414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74188G>A (TTN) | ENSP00000343764.6:p.Asp24730Asn | |
| ENST00000342175.11:c.55273G>A (TTN) | ENSP00000340554.6:p.Asp18425Asn | |
| ENST00000359218.10:c.55072G>A (TTN) | ENSP00000352154.5:p.Asp18358Asn | |
| ENST00000342175.10:c.55273G>A (TTN) | ENSP00000340554.6:p.Asp18425Asn | |
| ENST00000342992.10:c.74188G>A (TTN) | ENSP00000343764.6:p.Asp24730Asn | |
| ENST00000359218.9:c.55072G>A (TTN) | ENSP00000352154.5:p.Asp18358Asn | |
| ENST00000460472.6:c.54697G>A (TTN) | ENSP00000434586.1:p.Asp18233Asn | |
| ENST00000589042.5:c.81892G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp27298Asn | |
| ENST00000591111.5:c.76969G>A (TTN) | ENSP00000465570.1:p.Asp25657Asn | |
| ENST00000615779.4:c.76969G>A (TTN) | ENSP00000483597.1:p.Asp25657Asn | |
| NM_001256850.1:c.76969G>A (TTN) | NP_001243779.1:p.Asp25657Asn | |
| NM_001267550.2:c.81892G>A (TTN) MANE Select | NP_001254479.2:p.Asp27298Asn | |
| NM_003319.4:c.54697G>A (TTN) | NP_003310.4:p.Asp18233Asn | |
| NM_133378.4:c.74188G>A (TTN) | NP_596869.4:p.Asp24730Asn | |
| NM_133432.3:c.55072G>A (TTN) | NP_597676.3:p.Asp18358Asn | |
| NM_133437.4:c.55273G>A (TTN) | NP_597681.4:p.Asp18425Asn | |
| NR_038271.1:n.447-7060C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18332C>T (TTN-AS1) | ||
| XM_011511729.1:c.80989G>A (TTN) | XP_011510031.1:p.Asp26997Asn | |
| XM_011511730.1:c.54883G>A (TTN) | XP_011510032.1:p.Asp18295Asn | |
| XM_011511731.1:c.54742G>A (TTN) | XP_011510033.1:p.Asp18248Asn | |
| XM_017004819.1:c.80785G>A (TTN) | XP_016860308.1:p.Asp26929Asn | |
| XM_017004820.1:c.76183G>A (TTN) | XP_016860309.1:p.Asp25395Asn | |
| XM_017004821.1:c.76180G>A (TTN) | XP_016860310.1:p.Asp25394Asn | |
| XM_017004822.1:c.73222G>A (TTN) | XP_016860311.1:p.Asp24408Asn | |
| XM_017004823.1:c.54838G>A (TTN) | XP_016860312.1:p.Asp18280Asn | |
| XM_024453094.1:c.76333G>A (TTN) | XP_024308862.1:p.Asp25445Asn | |
| XM_024453095.1:c.76330G>A (TTN) | XP_024308863.1:p.Asp25444Asn | |
| XM_024453096.1:c.75763G>A (TTN) | XP_024308864.1:p.Asp25255Asn | |
| XM_024453097.1:c.73105G>A (TTN) | XP_024308865.1:p.Asp24369Asn | |
| XM_024453098.1:c.73024G>A (TTN) | XP_024308866.1:p.Asp24342Asn | |
| XM_024453099.1:c.54787G>A (TTN) | XP_024308867.1:p.Asp18263Asn | |
| XM_024453100.1:c.44641G>A (TTN) | XP_024308868.1:p.Asp14881Asn |