Linked Data
ClinVar Variation Id:
47348
ClinVar RCV Id:
RCV000040618
RCV000172252
RCV000303107
RCV000271372
RCV000365850
RCV000306562
RCV000400010
RCV001085393
RCV003448252
RCV004541177
RCV003486598
dbSNP Id:
rs201095164
ExAC:
2:179434186 T / A
gnomAD v2:
2-179434186-T-A
gnomAD v3:
2-178569459-T-A
gnomAD v4:
2-178569459-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569459T>A , CM000664.2:g.178569459T>A | GRCh38 |
| NC_000002.11:g.179434186T>A , CM000664.1:g.179434186T>A | GRCh37 |
| NC_000002.10:g.179142432T>A | NCBI36 |
| NG_011618.3:g.266344A>T , LRG_391:g.266344A>T | |
| NG_051363.1:g.51633T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68969A>T (TTN) | ENSP00000343764.6:p.Asp22990Val | |
| ENST00000342175.11:c.50054A>T (TTN) | ENSP00000340554.6:p.Asp16685Val | |
| ENST00000359218.10:c.49853A>T (TTN) | ENSP00000352154.5:p.Asp16618Val | |
| ENST00000342175.10:c.50054A>T (TTN) | ENSP00000340554.6:p.Asp16685Val | |
| ENST00000342992.10:c.68969A>T (TTN) | ENSP00000343764.6:p.Asp22990Val | |
| ENST00000359218.9:c.49853A>T (TTN) | ENSP00000352154.5:p.Asp16618Val | |
| ENST00000460472.6:c.49478A>T (TTN) | ENSP00000434586.1:p.Asp16493Val | |
| ENST00000589042.5:c.76673A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp25558Val | |
| ENST00000591111.5:c.71750A>T (TTN) | ENSP00000465570.1:p.Asp23917Val | |
| ENST00000615779.4:c.71750A>T (TTN) | ENSP00000483597.1:p.Asp23917Val | |
| NM_001256850.1:c.71750A>T (TTN) | NP_001243779.1:p.Asp23917Val | |
| NM_001267550.2:c.76673A>T (TTN) MANE Select | NP_001254479.2:p.Asp25558Val | |
| NM_003319.4:c.49478A>T (TTN) | NP_003310.4:p.Asp16493Val | |
| NM_133378.4:c.68969A>T (TTN) | NP_596869.4:p.Asp22990Val | |
| NM_133432.3:c.49853A>T (TTN) | NP_597676.3:p.Asp16618Val | |
| NM_133437.4:c.50054A>T (TTN) | NP_597681.4:p.Asp16685Val | |
| NR_038271.1:n.447-1841T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-13113T>A (TTN-AS1) | ||
| XM_011511729.1:c.75770A>T (TTN) | XP_011510031.1:p.Asp25257Val | |
| XM_011511730.1:c.49664A>T (TTN) | XP_011510032.1:p.Asp16555Val | |
| XM_011511731.1:c.49523A>T (TTN) | XP_011510033.1:p.Asp16508Val | |
| XM_017004819.1:c.75566A>T (TTN) | XP_016860308.1:p.Asp25189Val | |
| XM_017004820.1:c.70964A>T (TTN) | XP_016860309.1:p.Asp23655Val | |
| XM_017004821.1:c.70961A>T (TTN) | XP_016860310.1:p.Asp23654Val | |
| XM_017004822.1:c.68003A>T (TTN) | XP_016860311.1:p.Asp22668Val | |
| XM_017004823.1:c.49619A>T (TTN) | XP_016860312.1:p.Asp16540Val | |
| XM_024453094.1:c.71114A>T (TTN) | XP_024308862.1:p.Asp23705Val | |
| XM_024453095.1:c.71111A>T (TTN) | XP_024308863.1:p.Asp23704Val | |
| XM_024453096.1:c.70544A>T (TTN) | XP_024308864.1:p.Asp23515Val | |
| XM_024453097.1:c.67886A>T (TTN) | XP_024308865.1:p.Asp22629Val | |
| XM_024453098.1:c.67805A>T (TTN) | XP_024308866.1:p.Asp22602Val | |
| XM_024453099.1:c.49568A>T (TTN) | XP_024308867.1:p.Asp16523Val | |
| XM_024453100.1:c.39422A>T (TTN) | XP_024308868.1:p.Asp13141Val |