Linked Data
ClinVar Variation Id:
47665
ClinVar RCV Id:
RCV000040934
RCV000246198
RCV000273242
RCV000312978
RCV000365348
RCV000314269
RCV000371402
RCV000463236
RCV001529975
RCV001798212
RCV004528224
dbSNP Id:
rs199714102
ExAC:
2:179397368 G / A
gnomAD v2:
2-179397368-G-A
gnomAD v3:
2-178532641-G-A
gnomAD v4:
2-178532641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532641G>A , CM000664.2:g.178532641G>A | GRCh38 |
| NC_000002.11:g.179397368G>A , CM000664.1:g.179397368G>A | GRCh37 |
| NC_000002.10:g.179105614G>A | NCBI36 |
| NG_011618.3:g.303162C>T , LRG_391:g.303162C>T | |
| NG_051363.1:g.14815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96270C>T (TTN) | ENSP00000343764.6:p.Ile32090= | |
| ENST00000342175.11:c.77355C>T (TTN) | ENSP00000340554.6:p.Ile25785= | |
| ENST00000359218.10:c.77154C>T (TTN) | ENSP00000352154.5:p.Ile25718= | |
| ENST00000342175.10:c.77355C>T (TTN) | ENSP00000340554.6:p.Ile25785= | |
| ENST00000342992.10:c.96270C>T (TTN) | ENSP00000343764.6:p.Ile32090= | |
| ENST00000359218.9:c.77154C>T (TTN) | ENSP00000352154.5:p.Ile25718= | |
| ENST00000460472.6:c.76779C>T (TTN) | ENSP00000434586.1:p.Ile25593= | |
| ENST00000589042.5:c.103974C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile34658= | |
| ENST00000591111.5:c.99051C>T (TTN) | ENSP00000465570.1:p.Ile33017= | |
| ENST00000615779.4:c.99051C>T (TTN) | ENSP00000483597.1:p.Ile33017= | |
| NM_001256850.1:c.99051C>T (TTN) | NP_001243779.1:p.Ile33017= | |
| NM_001267550.2:c.103974C>T (TTN) MANE Select | NP_001254479.2:p.Ile34658= | |
| NM_003319.4:c.76779C>T (TTN) | NP_003310.4:p.Ile25593= | |
| NM_133378.4:c.96270C>T (TTN) | NP_596869.4:p.Ile32090= | |
| NM_133432.3:c.77154C>T (TTN) | NP_597676.3:p.Ile25718= | |
| NM_133437.4:c.77355C>T (TTN) | NP_597681.4:p.Ile25785= | |
| NR_038271.1:n.446+9005G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3091G>A (TTN-AS1) | ||
| XM_011511729.1:c.103071C>T (TTN) | XP_011510031.1:p.Ile34357= | |
| XM_011511730.1:c.76965C>T (TTN) | XP_011510032.1:p.Ile25655= | |
| XM_011511731.1:c.76824C>T (TTN) | XP_011510033.1:p.Ile25608= | |
| XM_017004819.1:c.102867C>T (TTN) | XP_016860308.1:p.Ile34289= | |
| XM_017004820.1:c.98265C>T (TTN) | XP_016860309.1:p.Ile32755= | |
| XM_017004821.1:c.98262C>T (TTN) | XP_016860310.1:p.Ile32754= | |
| XM_017004822.1:c.95304C>T (TTN) | XP_016860311.1:p.Ile31768= | |
| XM_017004823.1:c.76920C>T (TTN) | XP_016860312.1:p.Ile25640= | |
| XM_024453094.1:c.98415C>T (TTN) | XP_024308862.1:p.Ile32805= | |
| XM_024453095.1:c.98412C>T (TTN) | XP_024308863.1:p.Ile32804= | |
| XM_024453096.1:c.97845C>T (TTN) | XP_024308864.1:p.Ile32615= | |
| XM_024453097.1:c.95187C>T (TTN) | XP_024308865.1:p.Ile31729= | |
| XM_024453098.1:c.95106C>T (TTN) | XP_024308866.1:p.Ile31702= | |
| XM_024453099.1:c.76869C>T (TTN) | XP_024308867.1:p.Ile25623= | |
| XM_024453100.1:c.66723C>T (TTN) | XP_024308868.1:p.Ile22241= |