Linked Data
ClinVar Variation Id:
178163
ClinVar RCV Id:
RCV000154882
RCV000285402
RCV000355714
RCV000316176
RCV000319111
RCV000380063
RCV000727742
RCV001085608
RCV002362816
RCV003149942
dbSNP Id:
rs373853269
ExAC:
2:179404236 A / G
gnomAD v2:
2-179404236-A-G
gnomAD v3:
2-178539509-A-G
gnomAD v4:
2-178539509-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539509A>G , CM000664.2:g.178539509A>G | GRCh38 |
| NC_000002.11:g.179404236A>G , CM000664.1:g.179404236A>G | GRCh37 |
| NC_000002.10:g.179112482A>G | NCBI36 |
| NG_011618.3:g.296294T>C , LRG_391:g.296294T>C | |
| NG_051363.1:g.21683A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90852T>C (TTN) | ENSP00000343764.6:p.Gly30284= | |
| ENST00000342175.11:c.71937T>C (TTN) | ENSP00000340554.6:p.Gly23979= | |
| ENST00000359218.10:c.71736T>C (TTN) | ENSP00000352154.5:p.Gly23912= | |
| ENST00000342175.10:c.71937T>C (TTN) | ENSP00000340554.6:p.Gly23979= | |
| ENST00000342992.10:c.90852T>C (TTN) | ENSP00000343764.6:p.Gly30284= | |
| ENST00000359218.9:c.71736T>C (TTN) | ENSP00000352154.5:p.Gly23912= | |
| ENST00000460472.6:c.71361T>C (TTN) | ENSP00000434586.1:p.Gly23787= | |
| ENST00000589042.5:c.98556T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly32852= | |
| ENST00000591111.5:c.93633T>C (TTN) | ENSP00000465570.1:p.Gly31211= | |
| ENST00000615779.4:c.93633T>C (TTN) | ENSP00000483597.1:p.Gly31211= | |
| NM_001256850.1:c.93633T>C (TTN) | NP_001243779.1:p.Gly31211= | |
| NM_001267550.2:c.98556T>C (TTN) MANE Select | NP_001254479.2:p.Gly32852= | |
| NM_003319.4:c.71361T>C (TTN) | NP_003310.4:p.Gly23787= | |
| NM_133378.4:c.90852T>C (TTN) | NP_596869.4:p.Gly30284= | |
| NM_133432.3:c.71736T>C (TTN) | NP_597676.3:p.Gly23912= | |
| NM_133437.4:c.71937T>C (TTN) | NP_597681.4:p.Gly23979= | |
| NR_038271.1:n.446+15873A>G (TTN-AS1) | ||
| NR_038272.1:n.1459A>G (TTN-AS1) | ||
| XM_011511729.1:c.97653T>C (TTN) | XP_011510031.1:p.Gly32551= | |
| XM_011511730.1:c.71547T>C (TTN) | XP_011510032.1:p.Gly23849= | |
| XM_011511731.1:c.71406T>C (TTN) | XP_011510033.1:p.Gly23802= | |
| XM_017004819.1:c.97449T>C (TTN) | XP_016860308.1:p.Gly32483= | |
| XM_017004820.1:c.92847T>C (TTN) | XP_016860309.1:p.Gly30949= | |
| XM_017004821.1:c.92844T>C (TTN) | XP_016860310.1:p.Gly30948= | |
| XM_017004822.1:c.89886T>C (TTN) | XP_016860311.1:p.Gly29962= | |
| XM_017004823.1:c.71502T>C (TTN) | XP_016860312.1:p.Gly23834= | |
| XM_024453094.1:c.92997T>C (TTN) | XP_024308862.1:p.Gly30999= | |
| XM_024453095.1:c.92994T>C (TTN) | XP_024308863.1:p.Gly30998= | |
| XM_024453096.1:c.92427T>C (TTN) | XP_024308864.1:p.Gly30809= | |
| XM_024453097.1:c.89769T>C (TTN) | XP_024308865.1:p.Gly29923= | |
| XM_024453098.1:c.89688T>C (TTN) | XP_024308866.1:p.Gly29896= | |
| XM_024453099.1:c.71451T>C (TTN) | XP_024308867.1:p.Gly23817= | |
| XM_024453100.1:c.61305T>C (TTN) | XP_024308868.1:p.Gly20435= |