Linked Data
ClinVar Variation Id:
47353
ClinVar RCV Id:
RCV000040623
RCV000714097
RCV001088371
RCV001133862
RCV001133863
RCV001133864
RCV001133865
RCV001133866
RCV000620778
dbSNP Id:
rs375398118
ExAC:
2:179433786 A / G
gnomAD v2:
2-179433786-A-G
gnomAD v3:
2-178569059-A-G
gnomAD v4:
2-178569059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569059A>G , CM000664.2:g.178569059A>G | GRCh38 |
| NC_000002.11:g.179433786A>G , CM000664.1:g.179433786A>G | GRCh37 |
| NC_000002.10:g.179142032A>G | NCBI36 |
| NG_011618.3:g.266744T>C , LRG_391:g.266744T>C | |
| NG_051363.1:g.51233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69369T>C (TTN) | ENSP00000343764.6:p.Asp23123= | |
| ENST00000342175.11:c.50454T>C (TTN) | ENSP00000340554.6:p.Asp16818= | |
| ENST00000359218.10:c.50253T>C (TTN) | ENSP00000352154.5:p.Asp16751= | |
| ENST00000342175.10:c.50454T>C (TTN) | ENSP00000340554.6:p.Asp16818= | |
| ENST00000342992.10:c.69369T>C (TTN) | ENSP00000343764.6:p.Asp23123= | |
| ENST00000359218.9:c.50253T>C (TTN) | ENSP00000352154.5:p.Asp16751= | |
| ENST00000460472.6:c.49878T>C (TTN) | ENSP00000434586.1:p.Asp16626= | |
| ENST00000589042.5:c.77073T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp25691= | |
| ENST00000591111.5:c.72150T>C (TTN) | ENSP00000465570.1:p.Asp24050= | |
| ENST00000615779.4:c.72150T>C (TTN) | ENSP00000483597.1:p.Asp24050= | |
| NM_001256850.1:c.72150T>C (TTN) | NP_001243779.1:p.Asp24050= | |
| NM_001267550.2:c.77073T>C (TTN) MANE Select | NP_001254479.2:p.Asp25691= | |
| NM_003319.4:c.49878T>C (TTN) | NP_003310.4:p.Asp16626= | |
| NM_133378.4:c.69369T>C (TTN) | NP_596869.4:p.Asp23123= | |
| NM_133432.3:c.50253T>C (TTN) | NP_597676.3:p.Asp16751= | |
| NM_133437.4:c.50454T>C (TTN) | NP_597681.4:p.Asp16818= | |
| NR_038271.1:n.447-2241A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13513A>G (TTN-AS1) | ||
| XM_011511729.1:c.76170T>C (TTN) | XP_011510031.1:p.Asp25390= | |
| XM_011511730.1:c.50064T>C (TTN) | XP_011510032.1:p.Asp16688= | |
| XM_011511731.1:c.49923T>C (TTN) | XP_011510033.1:p.Asp16641= | |
| XM_017004819.1:c.75966T>C (TTN) | XP_016860308.1:p.Asp25322= | |
| XM_017004820.1:c.71364T>C (TTN) | XP_016860309.1:p.Asp23788= | |
| XM_017004821.1:c.71361T>C (TTN) | XP_016860310.1:p.Asp23787= | |
| XM_017004822.1:c.68403T>C (TTN) | XP_016860311.1:p.Asp22801= | |
| XM_017004823.1:c.50019T>C (TTN) | XP_016860312.1:p.Asp16673= | |
| XM_024453094.1:c.71514T>C (TTN) | XP_024308862.1:p.Asp23838= | |
| XM_024453095.1:c.71511T>C (TTN) | XP_024308863.1:p.Asp23837= | |
| XM_024453096.1:c.70944T>C (TTN) | XP_024308864.1:p.Asp23648= | |
| XM_024453097.1:c.68286T>C (TTN) | XP_024308865.1:p.Asp22762= | |
| XM_024453098.1:c.68205T>C (TTN) | XP_024308866.1:p.Asp22735= | |
| XM_024453099.1:c.49968T>C (TTN) | XP_024308867.1:p.Asp16656= | |
| XM_024453100.1:c.39822T>C (TTN) | XP_024308868.1:p.Asp13274= |