Linked Data
ClinVar Variation Id:
203040
ClinVar RCV Id:
RCV000468025
RCV001132340
RCV001133261
RCV001133262
RCV000727860
RCV001132339
RCV001132341
RCV002362970
dbSNP Id:
rs186244950
ExAC:
2:179404187 G / A
gnomAD v2:
2-179404187-G-A
gnomAD v3:
2-178539460-G-A
gnomAD v4:
2-178539460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539460G>A , CM000664.2:g.178539460G>A | GRCh38 |
| NC_000002.11:g.179404187G>A , CM000664.1:g.179404187G>A | GRCh37 |
| NC_000002.10:g.179112433G>A | NCBI36 |
| NG_011618.3:g.296343C>T , LRG_391:g.296343C>T | |
| NG_051363.1:g.21634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90901C>T (TTN) | ENSP00000343764.6:p.Arg30301Cys | |
| ENST00000342175.11:c.71986C>T (TTN) | ENSP00000340554.6:p.Arg23996Cys | |
| ENST00000359218.10:c.71785C>T (TTN) | ENSP00000352154.5:p.Arg23929Cys | |
| ENST00000342175.10:c.71986C>T (TTN) | ENSP00000340554.6:p.Arg23996Cys | |
| ENST00000342992.10:c.90901C>T (TTN) | ENSP00000343764.6:p.Arg30301Cys | |
| ENST00000359218.9:c.71785C>T (TTN) | ENSP00000352154.5:p.Arg23929Cys | |
| ENST00000460472.6:c.71410C>T (TTN) | ENSP00000434586.1:p.Arg23804Cys | |
| ENST00000589042.5:c.98605C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32869Cys | |
| ENST00000591111.5:c.93682C>T (TTN) | ENSP00000465570.1:p.Arg31228Cys | |
| ENST00000615779.4:c.93682C>T (TTN) | ENSP00000483597.1:p.Arg31228Cys | |
| NM_001256850.1:c.93682C>T (TTN) | NP_001243779.1:p.Arg31228Cys | |
| NM_001267550.2:c.98605C>T (TTN) MANE Select | NP_001254479.2:p.Arg32869Cys | |
| NM_003319.4:c.71410C>T (TTN) | NP_003310.4:p.Arg23804Cys | |
| NM_133378.4:c.90901C>T (TTN) | NP_596869.4:p.Arg30301Cys | |
| NM_133432.3:c.71785C>T (TTN) | NP_597676.3:p.Arg23929Cys | |
| NM_133437.4:c.71986C>T (TTN) | NP_597681.4:p.Arg23996Cys | |
| NR_038271.1:n.446+15824G>A (TTN-AS1) | ||
| NR_038272.1:n.1410G>A (TTN-AS1) | ||
| XM_011511729.1:c.97702C>T (TTN) | XP_011510031.1:p.Arg32568Cys | |
| XM_011511730.1:c.71596C>T (TTN) | XP_011510032.1:p.Arg23866Cys | |
| XM_011511731.1:c.71455C>T (TTN) | XP_011510033.1:p.Arg23819Cys | |
| XM_017004819.1:c.97498C>T (TTN) | XP_016860308.1:p.Arg32500Cys | |
| XM_017004820.1:c.92896C>T (TTN) | XP_016860309.1:p.Arg30966Cys | |
| XM_017004821.1:c.92893C>T (TTN) | XP_016860310.1:p.Arg30965Cys | |
| XM_017004822.1:c.89935C>T (TTN) | XP_016860311.1:p.Arg29979Cys | |
| XM_017004823.1:c.71551C>T (TTN) | XP_016860312.1:p.Arg23851Cys | |
| XM_024453094.1:c.93046C>T (TTN) | XP_024308862.1:p.Arg31016Cys | |
| XM_024453095.1:c.93043C>T (TTN) | XP_024308863.1:p.Arg31015Cys | |
| XM_024453096.1:c.92476C>T (TTN) | XP_024308864.1:p.Arg30826Cys | |
| XM_024453097.1:c.89818C>T (TTN) | XP_024308865.1:p.Arg29940Cys | |
| XM_024453098.1:c.89737C>T (TTN) | XP_024308866.1:p.Arg29913Cys | |
| XM_024453099.1:c.71500C>T (TTN) | XP_024308867.1:p.Arg23834Cys | |
| XM_024453100.1:c.61354C>T (TTN) | XP_024308868.1:p.Arg20452Cys |