Linked Data
ClinVar Variation Id:
202845
dbSNP Id:
rs373204984
ExAC:
2:179438033 T / A
gnomAD v2:
2-179438033-T-A
gnomAD v3:
2-178573306-T-A
gnomAD v4:
2-178573306-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573306T>A , CM000664.2:g.178573306T>A | GRCh38 |
| NC_000002.11:g.179438033T>A , CM000664.1:g.179438033T>A | GRCh37 |
| NC_000002.10:g.179146279T>A | NCBI36 |
| NG_011618.3:g.262497A>T , LRG_391:g.262497A>T | |
| NG_051363.1:g.55480T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65122A>T (TTN) | ENSP00000343764.6:p.Thr21708Ser | |
| ENST00000342175.11:c.46207A>T (TTN) | ENSP00000340554.6:p.Thr15403Ser | |
| ENST00000359218.10:c.46006A>T (TTN) | ENSP00000352154.5:p.Thr15336Ser | |
| ENST00000342175.10:c.46207A>T (TTN) | ENSP00000340554.6:p.Thr15403Ser | |
| ENST00000342992.10:c.65122A>T (TTN) | ENSP00000343764.6:p.Thr21708Ser | |
| ENST00000359218.9:c.46006A>T (TTN) | ENSP00000352154.5:p.Thr15336Ser | |
| ENST00000460472.6:c.45631A>T (TTN) | ENSP00000434586.1:p.Thr15211Ser | |
| ENST00000589042.5:c.72826A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr24276Ser | |
| ENST00000591111.5:c.67903A>T (TTN) | ENSP00000465570.1:p.Thr22635Ser | |
| ENST00000615779.4:c.67903A>T (TTN) | ENSP00000483597.1:p.Thr22635Ser | |
| NM_001256850.1:c.67903A>T (TTN) | NP_001243779.1:p.Thr22635Ser | |
| NM_001267550.2:c.72826A>T (TTN) MANE Select | NP_001254479.2:p.Thr24276Ser | |
| NM_003319.4:c.45631A>T (TTN) | NP_003310.4:p.Thr15211Ser | |
| NM_133378.4:c.65122A>T (TTN) | NP_596869.4:p.Thr21708Ser | |
| NM_133432.3:c.46006A>T (TTN) | NP_597676.3:p.Thr15336Ser | |
| NM_133437.4:c.46207A>T (TTN) | NP_597681.4:p.Thr15403Ser | |
| NR_038271.1:n.596+1857T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-9266T>A (TTN-AS1) | ||
| XM_011511729.1:c.71923A>T (TTN) | XP_011510031.1:p.Thr23975Ser | |
| XM_011511730.1:c.45817A>T (TTN) | XP_011510032.1:p.Thr15273Ser | |
| XM_011511731.1:c.45676A>T (TTN) | XP_011510033.1:p.Thr15226Ser | |
| XM_017004819.1:c.71719A>T (TTN) | XP_016860308.1:p.Thr23907Ser | |
| XM_017004820.1:c.67117A>T (TTN) | XP_016860309.1:p.Thr22373Ser | |
| XM_017004821.1:c.67114A>T (TTN) | XP_016860310.1:p.Thr22372Ser | |
| XM_017004822.1:c.64156A>T (TTN) | XP_016860311.1:p.Thr21386Ser | |
| XM_017004823.1:c.45772A>T (TTN) | XP_016860312.1:p.Thr15258Ser | |
| XM_024453094.1:c.67267A>T (TTN) | XP_024308862.1:p.Thr22423Ser | |
| XM_024453095.1:c.67264A>T (TTN) | XP_024308863.1:p.Thr22422Ser | |
| XM_024453096.1:c.66697A>T (TTN) | XP_024308864.1:p.Thr22233Ser | |
| XM_024453097.1:c.64039A>T (TTN) | XP_024308865.1:p.Thr21347Ser | |
| XM_024453098.1:c.63958A>T (TTN) | XP_024308866.1:p.Thr21320Ser | |
| XM_024453099.1:c.45721A>T (TTN) | XP_024308867.1:p.Thr15241Ser | |
| XM_024453100.1:c.35575A>T (TTN) | XP_024308868.1:p.Thr11859Ser |