Linked Data
ClinVar Variation Id:
130674
ClinVar RCV Id:
RCV000118770
RCV001133164
RCV001133166
RCV001133168
RCV001133165
RCV001133167
RCV001404960
dbSNP Id:
rs587780491
ExAC:
2:179457599 G / A
gnomAD v2:
2-179457599-G-A
gnomAD v3:
2-178592872-G-A
gnomAD v4:
2-178592872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592872G>A , CM000664.2:g.178592872G>A | GRCh38 |
| NC_000002.11:g.179457599G>A , CM000664.1:g.179457599G>A | GRCh37 |
| NC_000002.10:g.179165845G>A | NCBI36 |
| NG_011618.3:g.242931C>T , LRG_391:g.242931C>T | |
| NG_051363.1:g.75046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51543C>T (TTN) | ENSP00000343764.6:p.Asp17181= | |
| ENST00000342175.11:c.32628C>T (TTN) | ENSP00000340554.6:p.Asp10876= | |
| ENST00000359218.10:c.32427C>T (TTN) | ENSP00000352154.5:p.Asp10809= | |
| ENST00000342175.10:c.32628C>T (TTN) | ENSP00000340554.6:p.Asp10876= | |
| ENST00000342992.10:c.51543C>T (TTN) | ENSP00000343764.6:p.Asp17181= | |
| ENST00000359218.9:c.32427C>T (TTN) | ENSP00000352154.5:p.Asp10809= | |
| ENST00000460472.6:c.32052C>T (TTN) | ENSP00000434586.1:p.Asp10684= | |
| ENST00000589042.5:c.59247C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp19749= | |
| ENST00000591111.5:c.54324C>T (TTN) | ENSP00000465570.1:p.Asp18108= | |
| ENST00000615779.4:c.54324C>T (TTN) | ENSP00000483597.1:p.Asp18108= | |
| NM_001256850.1:c.54324C>T (TTN) | NP_001243779.1:p.Asp18108= | |
| NM_001267550.2:c.59247C>T (TTN) MANE Select | NP_001254479.2:p.Asp19749= | |
| NM_003319.4:c.32052C>T (TTN) | NP_003310.4:p.Asp10684= | |
| NM_133378.4:c.51543C>T (TTN) | NP_596869.4:p.Asp17181= | |
| NM_133432.3:c.32427C>T (TTN) | NP_597676.3:p.Asp10809= | |
| NM_133437.4:c.32628C>T (TTN) | NP_597681.4:p.Asp10876= | |
| NR_038271.1:n.597-4724G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1558G>A (TTN-AS1) | ||
| XM_011511729.1:c.58344C>T (TTN) | XP_011510031.1:p.Asp19448= | |
| XM_011511730.1:c.32238C>T (TTN) | XP_011510032.1:p.Asp10746= | |
| XM_011511731.1:c.32097C>T (TTN) | XP_011510033.1:p.Asp10699= | |
| XM_017004819.1:c.58140C>T (TTN) | XP_016860308.1:p.Asp19380= | |
| XM_017004820.1:c.53538C>T (TTN) | XP_016860309.1:p.Asp17846= | |
| XM_017004821.1:c.53535C>T (TTN) | XP_016860310.1:p.Asp17845= | |
| XM_017004822.1:c.50577C>T (TTN) | XP_016860311.1:p.Asp16859= | |
| XM_017004823.1:c.32193C>T (TTN) | XP_016860312.1:p.Asp10731= | |
| XM_024453094.1:c.53688C>T (TTN) | XP_024308862.1:p.Asp17896= | |
| XM_024453095.1:c.53685C>T (TTN) | XP_024308863.1:p.Asp17895= | |
| XM_024453096.1:c.53118C>T (TTN) | XP_024308864.1:p.Asp17706= | |
| XM_024453097.1:c.50460C>T (TTN) | XP_024308865.1:p.Asp16820= | |
| XM_024453098.1:c.50379C>T (TTN) | XP_024308866.1:p.Asp16793= | |
| XM_024453099.1:c.32142C>T (TTN) | XP_024308867.1:p.Asp10714= | |
| XM_024453100.1:c.21996C>T (TTN) | XP_024308868.1:p.Asp7332= |