Linked Data
ClinVar Variation Id:
46574
ClinVar RCV Id:
RCV000039844
RCV000245995
RCV000464935
RCV001134349
RCV001134350
RCV001131347
RCV001131346
RCV001131348
RCV001528464
RCV004534849
dbSNP Id:
rs147293964
ExAC:
2:179391949 A / G
gnomAD v2:
2-179391949-A-G
gnomAD v3:
2-178527222-A-G
gnomAD v4:
2-178527222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527222A>G , CM000664.2:g.178527222A>G | GRCh38 |
| NC_000002.11:g.179391949A>G , CM000664.1:g.179391949A>G | GRCh37 |
| NC_000002.10:g.179100195A>G | NCBI36 |
| NG_011618.3:g.308581T>C , LRG_391:g.308581T>C | |
| NG_051363.1:g.9396A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100062T>C (TTN) | ENSP00000343764.6:p.Gly33354= | |
| ENST00000342175.11:c.81147T>C (TTN) | ENSP00000340554.6:p.Gly27049= | |
| ENST00000359218.10:c.80946T>C (TTN) | ENSP00000352154.5:p.Gly26982= | |
| ENST00000342175.10:c.81147T>C (TTN) | ENSP00000340554.6:p.Gly27049= | |
| ENST00000342992.10:c.100062T>C (TTN) | ENSP00000343764.6:p.Gly33354= | |
| ENST00000359218.9:c.80946T>C (TTN) | ENSP00000352154.5:p.Gly26982= | |
| ENST00000460472.6:c.80571T>C (TTN) | ENSP00000434586.1:p.Gly26857= | |
| ENST00000589042.5:c.107766T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly35922= | |
| ENST00000591111.5:c.102843T>C (TTN) | ENSP00000465570.1:p.Gly34281= | |
| ENST00000615779.4:c.102843T>C (TTN) | ENSP00000483597.1:p.Gly34281= | |
| NM_001256850.1:c.102843T>C (TTN) | NP_001243779.1:p.Gly34281= | |
| NM_001267550.2:c.107766T>C (TTN) MANE Select | NP_001254479.2:p.Gly35922= | |
| NM_003319.4:c.80571T>C (TTN) | NP_003310.4:p.Gly26857= | |
| NM_133378.4:c.100062T>C (TTN) | NP_596869.4:p.Gly33354= | |
| NM_133432.3:c.80946T>C (TTN) | NP_597676.3:p.Gly26982= | |
| NM_133437.4:c.81147T>C (TTN) | NP_597681.4:p.Gly27049= | |
| NR_038271.1:n.446+3586A>G (TTN-AS1) | ||
| NR_038272.1:n.219+3586A>G (TTN-AS1) | ||
| XM_011511729.1:c.106863T>C (TTN) | XP_011510031.1:p.Gly35621= | |
| XM_011511730.1:c.80757T>C (TTN) | XP_011510032.1:p.Gly26919= | |
| XM_011511731.1:c.80616T>C (TTN) | XP_011510033.1:p.Gly26872= | |
| XM_017004819.1:c.106659T>C (TTN) | XP_016860308.1:p.Gly35553= | |
| XM_017004820.1:c.102057T>C (TTN) | XP_016860309.1:p.Gly34019= | |
| XM_017004821.1:c.102054T>C (TTN) | XP_016860310.1:p.Gly34018= | |
| XM_017004822.1:c.99096T>C (TTN) | XP_016860311.1:p.Gly33032= | |
| XM_017004823.1:c.80712T>C (TTN) | XP_016860312.1:p.Gly26904= | |
| XM_024453094.1:c.102207T>C (TTN) | XP_024308862.1:p.Gly34069= | |
| XM_024453095.1:c.102204T>C (TTN) | XP_024308863.1:p.Gly34068= | |
| XM_024453096.1:c.101637T>C (TTN) | XP_024308864.1:p.Gly33879= | |
| XM_024453097.1:c.98979T>C (TTN) | XP_024308865.1:p.Gly32993= | |
| XM_024453098.1:c.98898T>C (TTN) | XP_024308866.1:p.Gly32966= | |
| XM_024453099.1:c.80661T>C (TTN) | XP_024308867.1:p.Gly26887= | |
| XM_024453100.1:c.70515T>C (TTN) | XP_024308868.1:p.Gly23505= |