Linked Data
ClinVar Variation Id:
47086
ClinVar RCV Id:
RCV000040356
RCV000465245
RCV000770008
RCV001136066
RCV001311249
RCV001129093
RCV001129094
RCV001136065
RCV001136067
RCV004534908
RCV002453325
dbSNP Id:
rs2303834
ExAC:
2:179469715 A / G
gnomAD v2:
2-179469715-A-G
gnomAD v3:
2-178604988-A-G
gnomAD v4:
2-178604988-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604988A>G , CM000664.2:g.178604988A>G | GRCh38 |
| NC_000002.11:g.179469715A>G , CM000664.1:g.179469715A>G | GRCh37 |
| NC_000002.10:g.179177960A>G | NCBI36 |
| NG_011618.3:g.230815T>C , LRG_391:g.230815T>C | |
| NG_051363.1:g.87162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46485T>C (TTN) | ENSP00000343764.6:p.Tyr15495= | |
| ENST00000342175.11:c.27570T>C (TTN) | ENSP00000340554.6:p.Tyr9190= | |
| ENST00000359218.10:c.27369T>C (TTN) | ENSP00000352154.5:p.Tyr9123= | |
| ENST00000342175.10:c.27570T>C (TTN) | ENSP00000340554.6:p.Tyr9190= | |
| ENST00000342992.10:c.46485T>C (TTN) | ENSP00000343764.6:p.Tyr15495= | |
| ENST00000359218.9:c.27369T>C (TTN) | ENSP00000352154.5:p.Tyr9123= | |
| ENST00000460472.6:c.26994T>C (TTN) | ENSP00000434586.1:p.Tyr8998= | |
| ENST00000589042.5:c.54189T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr18063= | |
| ENST00000591111.5:c.49266T>C (TTN) | ENSP00000465570.1:p.Tyr16422= | |
| ENST00000615779.4:c.49266T>C (TTN) | ENSP00000483597.1:p.Tyr16422= | |
| NM_001256850.1:c.49266T>C (TTN) | NP_001243779.1:p.Tyr16422= | |
| NM_001267550.2:c.54189T>C (TTN) MANE Select | NP_001254479.2:p.Tyr18063= | |
| NM_003319.4:c.26994T>C (TTN) | NP_003310.4:p.Tyr8998= | |
| NM_133378.4:c.46485T>C (TTN) | NP_596869.4:p.Tyr15495= | |
| NM_133432.3:c.27369T>C (TTN) | NP_597676.3:p.Tyr9123= | |
| NM_133437.4:c.27570T>C (TTN) | NP_597681.4:p.Tyr9190= | |
| NR_038271.1:n.683-3179A>G (TTN-AS1) | ||
| NR_038272.1:n.4175A>G (TTN-AS1) | ||
| XM_011511729.1:c.53286T>C (TTN) | XP_011510031.1:p.Tyr17762= | |
| XM_011511730.1:c.27180T>C (TTN) | XP_011510032.1:p.Tyr9060= | |
| XM_011511731.1:c.27039T>C (TTN) | XP_011510033.1:p.Tyr9013= | |
| XM_017004819.1:c.53082T>C (TTN) | XP_016860308.1:p.Tyr17694= | |
| XM_017004820.1:c.48480T>C (TTN) | XP_016860309.1:p.Tyr16160= | |
| XM_017004821.1:c.48477T>C (TTN) | XP_016860310.1:p.Tyr16159= | |
| XM_017004822.1:c.45519T>C (TTN) | XP_016860311.1:p.Tyr15173= | |
| XM_017004823.1:c.27135T>C (TTN) | XP_016860312.1:p.Tyr9045= | |
| XM_024453094.1:c.48630T>C (TTN) | XP_024308862.1:p.Tyr16210= | |
| XM_024453095.1:c.48627T>C (TTN) | XP_024308863.1:p.Tyr16209= | |
| XM_024453096.1:c.48060T>C (TTN) | XP_024308864.1:p.Tyr16020= | |
| XM_024453097.1:c.45402T>C (TTN) | XP_024308865.1:p.Tyr15134= | |
| XM_024453098.1:c.45321T>C (TTN) | XP_024308866.1:p.Tyr15107= | |
| XM_024453099.1:c.27084T>C (TTN) | XP_024308867.1:p.Tyr9028= | |
| XM_024453100.1:c.16938T>C (TTN) | XP_024308868.1:p.Tyr5646= |