Linked Data
ClinVar Variation Id:
96299
ClinVar RCV Id:
RCV000152231
RCV001133734
RCV001133735
RCV001080767
RCV000723764
RCV001133731
RCV001133732
RCV001133733
RCV002326801
dbSNP Id:
rs372382315
ExAC:
2:179440368 G / A
gnomAD v2:
2-179440368-G-A
gnomAD v3:
2-178575641-G-A
gnomAD v4:
2-178575641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575641G>A , CM000664.2:g.178575641G>A | GRCh38 |
| NC_000002.11:g.179440368G>A , CM000664.1:g.179440368G>A | GRCh37 |
| NC_000002.10:g.179148614G>A | NCBI36 |
| NG_011618.3:g.260162C>T , LRG_391:g.260162C>T | |
| NG_051363.1:g.57815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62787C>T (TTN) | ENSP00000343764.6:p.Thr20929= | |
| ENST00000342175.11:c.43872C>T (TTN) | ENSP00000340554.6:p.Thr14624= | |
| ENST00000359218.10:c.43671C>T (TTN) | ENSP00000352154.5:p.Thr14557= | |
| ENST00000342175.10:c.43872C>T (TTN) | ENSP00000340554.6:p.Thr14624= | |
| ENST00000342992.10:c.62787C>T (TTN) | ENSP00000343764.6:p.Thr20929= | |
| ENST00000359218.9:c.43671C>T (TTN) | ENSP00000352154.5:p.Thr14557= | |
| ENST00000460472.6:c.43296C>T (TTN) | ENSP00000434586.1:p.Thr14432= | |
| ENST00000589042.5:c.70491C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr23497= | |
| ENST00000591111.5:c.65568C>T (TTN) | ENSP00000465570.1:p.Thr21856= | |
| ENST00000615779.4:c.65568C>T (TTN) | ENSP00000483597.1:p.Thr21856= | |
| NM_001256850.1:c.65568C>T (TTN) | NP_001243779.1:p.Thr21856= | |
| NM_001267550.2:c.70491C>T (TTN) MANE Select | NP_001254479.2:p.Thr23497= | |
| NM_003319.4:c.43296C>T (TTN) | NP_003310.4:p.Thr14432= | |
| NM_133378.4:c.62787C>T (TTN) | NP_596869.4:p.Thr20929= | |
| NM_133432.3:c.43671C>T (TTN) | NP_597676.3:p.Thr14557= | |
| NM_133437.4:c.43872C>T (TTN) | NP_597681.4:p.Thr14624= | |
| NR_038271.1:n.596+4192G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-6931G>A (TTN-AS1) | ||
| XM_011511729.1:c.69588C>T (TTN) | XP_011510031.1:p.Thr23196= | |
| XM_011511730.1:c.43482C>T (TTN) | XP_011510032.1:p.Thr14494= | |
| XM_011511731.1:c.43341C>T (TTN) | XP_011510033.1:p.Thr14447= | |
| XM_017004819.1:c.69384C>T (TTN) | XP_016860308.1:p.Thr23128= | |
| XM_017004820.1:c.64782C>T (TTN) | XP_016860309.1:p.Thr21594= | |
| XM_017004821.1:c.64779C>T (TTN) | XP_016860310.1:p.Thr21593= | |
| XM_017004822.1:c.61821C>T (TTN) | XP_016860311.1:p.Thr20607= | |
| XM_017004823.1:c.43437C>T (TTN) | XP_016860312.1:p.Thr14479= | |
| XM_024453094.1:c.64932C>T (TTN) | XP_024308862.1:p.Thr21644= | |
| XM_024453095.1:c.64929C>T (TTN) | XP_024308863.1:p.Thr21643= | |
| XM_024453096.1:c.64362C>T (TTN) | XP_024308864.1:p.Thr21454= | |
| XM_024453097.1:c.61704C>T (TTN) | XP_024308865.1:p.Thr20568= | |
| XM_024453098.1:c.61623C>T (TTN) | XP_024308866.1:p.Thr20541= | |
| XM_024453099.1:c.43386C>T (TTN) | XP_024308867.1:p.Thr14462= | |
| XM_024453100.1:c.33240C>T (TTN) | XP_024308868.1:p.Thr11080= |