Linked Data
ClinVar Variation Id:
47596
ClinVar RCV Id:
RCV000040865
RCV000172610
RCV000341836
RCV000298721
RCV000338814
RCV000387355
RCV000401107
RCV000620090
RCV000768849
RCV001081784
RCV004534949
dbSNP Id:
rs72648272
ExAC:
2:179404550 G / A
gnomAD v2:
2-179404550-G-A
gnomAD v3:
2-178539823-G-A
gnomAD v4:
2-178539823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539823G>A , CM000664.2:g.178539823G>A | GRCh38 |
| NC_000002.11:g.179404550G>A , CM000664.1:g.179404550G>A | GRCh37 |
| NC_000002.10:g.179112796G>A | NCBI36 |
| NG_011618.3:g.295980C>T , LRG_391:g.295980C>T | |
| NG_051363.1:g.21997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90538C>T (TTN) | ENSP00000343764.6:p.Arg30180Cys | |
| ENST00000342175.11:c.71623C>T (TTN) | ENSP00000340554.6:p.Arg23875Cys | |
| ENST00000359218.10:c.71422C>T (TTN) | ENSP00000352154.5:p.Arg23808Cys | |
| ENST00000342175.10:c.71623C>T (TTN) | ENSP00000340554.6:p.Arg23875Cys | |
| ENST00000342992.10:c.90538C>T (TTN) | ENSP00000343764.6:p.Arg30180Cys | |
| ENST00000359218.9:c.71422C>T (TTN) | ENSP00000352154.5:p.Arg23808Cys | |
| ENST00000460472.6:c.71047C>T (TTN) | ENSP00000434586.1:p.Arg23683Cys | |
| ENST00000589042.5:c.98242C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32748Cys | |
| ENST00000591111.5:c.93319C>T (TTN) | ENSP00000465570.1:p.Arg31107Cys | |
| ENST00000615779.4:c.93319C>T (TTN) | ENSP00000483597.1:p.Arg31107Cys | |
| NM_001256850.1:c.93319C>T (TTN) | NP_001243779.1:p.Arg31107Cys | |
| NM_001267550.2:c.98242C>T (TTN) MANE Select | NP_001254479.2:p.Arg32748Cys | |
| NM_003319.4:c.71047C>T (TTN) | NP_003310.4:p.Arg23683Cys | |
| NM_133378.4:c.90538C>T (TTN) | NP_596869.4:p.Arg30180Cys | |
| NM_133432.3:c.71422C>T (TTN) | NP_597676.3:p.Arg23808Cys | |
| NM_133437.4:c.71623C>T (TTN) | NP_597681.4:p.Arg23875Cys | |
| NR_038271.1:n.446+16187G>A (TTN-AS1) | ||
| NR_038272.1:n.1773G>A (TTN-AS1) | ||
| XM_011511729.1:c.97339C>T (TTN) | XP_011510031.1:p.Arg32447Cys | |
| XM_011511730.1:c.71233C>T (TTN) | XP_011510032.1:p.Arg23745Cys | |
| XM_011511731.1:c.71092C>T (TTN) | XP_011510033.1:p.Arg23698Cys | |
| XM_017004819.1:c.97135C>T (TTN) | XP_016860308.1:p.Arg32379Cys | |
| XM_017004820.1:c.92533C>T (TTN) | XP_016860309.1:p.Arg30845Cys | |
| XM_017004821.1:c.92530C>T (TTN) | XP_016860310.1:p.Arg30844Cys | |
| XM_017004822.1:c.89572C>T (TTN) | XP_016860311.1:p.Arg29858Cys | |
| XM_017004823.1:c.71188C>T (TTN) | XP_016860312.1:p.Arg23730Cys | |
| XM_024453094.1:c.92683C>T (TTN) | XP_024308862.1:p.Arg30895Cys | |
| XM_024453095.1:c.92680C>T (TTN) | XP_024308863.1:p.Arg30894Cys | |
| XM_024453096.1:c.92113C>T (TTN) | XP_024308864.1:p.Arg30705Cys | |
| XM_024453097.1:c.89455C>T (TTN) | XP_024308865.1:p.Arg29819Cys | |
| XM_024453098.1:c.89374C>T (TTN) | XP_024308866.1:p.Arg29792Cys | |
| XM_024453099.1:c.71137C>T (TTN) | XP_024308867.1:p.Arg23713Cys | |
| XM_024453100.1:c.60991C>T (TTN) | XP_024308868.1:p.Arg20331Cys |