Linked Data
ClinVar Variation Id:
96309
ClinVar RCV Id:
RCV000154911
RCV000231904
RCV000621416
RCV000852803
RCV001130751
RCV001130753
RCV001133725
RCV001130750
RCV001130752
RCV001811389
RCV003486644
dbSNP Id:
rs188370772
ExAC:
2:179427119 T / C
gnomAD v2:
2-179427119-T-C
gnomAD v3:
2-178562392-T-C
gnomAD v4:
2-178562392-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562392T>C , CM000664.2:g.178562392T>C | GRCh38 |
| NC_000002.11:g.179427119T>C , CM000664.1:g.179427119T>C | GRCh37 |
| NC_000002.10:g.179135365T>C | NCBI36 |
| NG_011618.3:g.273411A>G , LRG_391:g.273411A>G | |
| NG_051363.1:g.44566T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76036A>G (TTN) | ENSP00000343764.6:p.Thr25346Ala | |
| ENST00000342175.11:c.57121A>G (TTN) | ENSP00000340554.6:p.Thr19041Ala | |
| ENST00000359218.10:c.56920A>G (TTN) | ENSP00000352154.5:p.Thr18974Ala | |
| ENST00000342175.10:c.57121A>G (TTN) | ENSP00000340554.6:p.Thr19041Ala | |
| ENST00000342992.10:c.76036A>G (TTN) | ENSP00000343764.6:p.Thr25346Ala | |
| ENST00000359218.9:c.56920A>G (TTN) | ENSP00000352154.5:p.Thr18974Ala | |
| ENST00000460472.6:c.56545A>G (TTN) | ENSP00000434586.1:p.Thr18849Ala | |
| ENST00000589042.5:c.83740A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr27914Ala | |
| ENST00000591111.5:c.78817A>G (TTN) | ENSP00000465570.1:p.Thr26273Ala | |
| ENST00000615779.4:c.78817A>G (TTN) | ENSP00000483597.1:p.Thr26273Ala | |
| NM_001256850.1:c.78817A>G (TTN) | NP_001243779.1:p.Thr26273Ala | |
| NM_001267550.2:c.83740A>G (TTN) MANE Select | NP_001254479.2:p.Thr27914Ala | |
| NM_003319.4:c.56545A>G (TTN) | NP_003310.4:p.Thr18849Ala | |
| NM_133378.4:c.76036A>G (TTN) | NP_596869.4:p.Thr25346Ala | |
| NM_133432.3:c.56920A>G (TTN) | NP_597676.3:p.Thr18974Ala | |
| NM_133437.4:c.57121A>G (TTN) | NP_597681.4:p.Thr19041Ala | |
| NR_038271.1:n.447-8908T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+20031T>C (TTN-AS1) | ||
| XM_011511729.1:c.82837A>G (TTN) | XP_011510031.1:p.Thr27613Ala | |
| XM_011511730.1:c.56731A>G (TTN) | XP_011510032.1:p.Thr18911Ala | |
| XM_011511731.1:c.56590A>G (TTN) | XP_011510033.1:p.Thr18864Ala | |
| XM_017004819.1:c.82633A>G (TTN) | XP_016860308.1:p.Thr27545Ala | |
| XM_017004820.1:c.78031A>G (TTN) | XP_016860309.1:p.Thr26011Ala | |
| XM_017004821.1:c.78028A>G (TTN) | XP_016860310.1:p.Thr26010Ala | |
| XM_017004822.1:c.75070A>G (TTN) | XP_016860311.1:p.Thr25024Ala | |
| XM_017004823.1:c.56686A>G (TTN) | XP_016860312.1:p.Thr18896Ala | |
| XM_024453094.1:c.78181A>G (TTN) | XP_024308862.1:p.Thr26061Ala | |
| XM_024453095.1:c.78178A>G (TTN) | XP_024308863.1:p.Thr26060Ala | |
| XM_024453096.1:c.77611A>G (TTN) | XP_024308864.1:p.Thr25871Ala | |
| XM_024453097.1:c.74953A>G (TTN) | XP_024308865.1:p.Thr24985Ala | |
| XM_024453098.1:c.74872A>G (TTN) | XP_024308866.1:p.Thr24958Ala | |
| XM_024453099.1:c.56635A>G (TTN) | XP_024308867.1:p.Thr18879Ala | |
| XM_024453100.1:c.46489A>G (TTN) | XP_024308868.1:p.Thr15497Ala |