Linked Data
ClinVar Variation Id:
47399
ClinVar RCV Id:
RCV000040669
RCV000243142
RCV000289639
RCV000311788
RCV000343025
RCV000392160
RCV000401208
RCV000756835
RCV000768912
RCV001083853
RCV004528221
dbSNP Id:
rs56181243
ExAC:
2:179429301 A / G
gnomAD v2:
2-179429301-A-G
gnomAD v3:
2-178564574-A-G
gnomAD v4:
2-178564574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564574A>G , CM000664.2:g.178564574A>G | GRCh38 |
| NC_000002.11:g.179429301A>G , CM000664.1:g.179429301A>G | GRCh37 |
| NC_000002.10:g.179137547A>G | NCBI36 |
| NG_011618.3:g.271229T>C , LRG_391:g.271229T>C | |
| NG_051363.1:g.46748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73854T>C (TTN) | ENSP00000343764.6:p.Asn24618= | |
| ENST00000342175.11:c.54939T>C (TTN) | ENSP00000340554.6:p.Asn18313= | |
| ENST00000359218.10:c.54738T>C (TTN) | ENSP00000352154.5:p.Asn18246= | |
| ENST00000342175.10:c.54939T>C (TTN) | ENSP00000340554.6:p.Asn18313= | |
| ENST00000342992.10:c.73854T>C (TTN) | ENSP00000343764.6:p.Asn24618= | |
| ENST00000359218.9:c.54738T>C (TTN) | ENSP00000352154.5:p.Asn18246= | |
| ENST00000460472.6:c.54363T>C (TTN) | ENSP00000434586.1:p.Asn18121= | |
| ENST00000589042.5:c.81558T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn27186= | |
| ENST00000591111.5:c.76635T>C (TTN) | ENSP00000465570.1:p.Asn25545= | |
| ENST00000615779.4:c.76635T>C (TTN) | ENSP00000483597.1:p.Asn25545= | |
| NM_001256850.1:c.76635T>C (TTN) | NP_001243779.1:p.Asn25545= | |
| NM_001267550.2:c.81558T>C (TTN) MANE Select | NP_001254479.2:p.Asn27186= | |
| NM_003319.4:c.54363T>C (TTN) | NP_003310.4:p.Asn18121= | |
| NM_133378.4:c.73854T>C (TTN) | NP_596869.4:p.Asn24618= | |
| NM_133432.3:c.54738T>C (TTN) | NP_597676.3:p.Asn18246= | |
| NM_133437.4:c.54939T>C (TTN) | NP_597681.4:p.Asn18313= | |
| NR_038271.1:n.447-6726A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17998A>G (TTN-AS1) | ||
| XM_011511729.1:c.80655T>C (TTN) | XP_011510031.1:p.Asn26885= | |
| XM_011511730.1:c.54549T>C (TTN) | XP_011510032.1:p.Asn18183= | |
| XM_011511731.1:c.54408T>C (TTN) | XP_011510033.1:p.Asn18136= | |
| XM_017004819.1:c.80451T>C (TTN) | XP_016860308.1:p.Asn26817= | |
| XM_017004820.1:c.75849T>C (TTN) | XP_016860309.1:p.Asn25283= | |
| XM_017004821.1:c.75846T>C (TTN) | XP_016860310.1:p.Asn25282= | |
| XM_017004822.1:c.72888T>C (TTN) | XP_016860311.1:p.Asn24296= | |
| XM_017004823.1:c.54504T>C (TTN) | XP_016860312.1:p.Asn18168= | |
| XM_024453094.1:c.75999T>C (TTN) | XP_024308862.1:p.Asn25333= | |
| XM_024453095.1:c.75996T>C (TTN) | XP_024308863.1:p.Asn25332= | |
| XM_024453096.1:c.75429T>C (TTN) | XP_024308864.1:p.Asn25143= | |
| XM_024453097.1:c.72771T>C (TTN) | XP_024308865.1:p.Asn24257= | |
| XM_024453098.1:c.72690T>C (TTN) | XP_024308866.1:p.Asn24230= | |
| XM_024453099.1:c.54453T>C (TTN) | XP_024308867.1:p.Asn18151= | |
| XM_024453100.1:c.44307T>C (TTN) | XP_024308868.1:p.Asn14769= |