Linked Data
ClinVar Variation Id:
1125272
ClinVar RCV Id:
RCV001456969
dbSNP Id:
rs772475819
ExAC:
2:179457509 G / A
gnomAD v2:
2-179457509-G-A
gnomAD v4:
2-178592782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592782G>A , CM000664.2:g.178592782G>A | GRCh38 |
| NC_000002.11:g.179457509G>A , CM000664.1:g.179457509G>A | GRCh37 |
| NC_000002.10:g.179165755G>A | NCBI36 |
| NG_011618.3:g.243021C>T , LRG_391:g.243021C>T | |
| NG_051363.1:g.74956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51633C>T (TTN) | ENSP00000343764.6:p.Asp17211= | |
| ENST00000342175.11:c.32718C>T (TTN) | ENSP00000340554.6:p.Asp10906= | |
| ENST00000359218.10:c.32517C>T (TTN) | ENSP00000352154.5:p.Asp10839= | |
| ENST00000342175.10:c.32718C>T (TTN) | ENSP00000340554.6:p.Asp10906= | |
| ENST00000342992.10:c.51633C>T (TTN) | ENSP00000343764.6:p.Asp17211= | |
| ENST00000359218.9:c.32517C>T (TTN) | ENSP00000352154.5:p.Asp10839= | |
| ENST00000460472.6:c.32142C>T (TTN) | ENSP00000434586.1:p.Asp10714= | |
| ENST00000589042.5:c.59337C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp19779= | |
| ENST00000591111.5:c.54414C>T (TTN) | ENSP00000465570.1:p.Asp18138= | |
| ENST00000615779.4:c.54414C>T (TTN) | ENSP00000483597.1:p.Asp18138= | |
| NM_001256850.1:c.54414C>T (TTN) | NP_001243779.1:p.Asp18138= | |
| NM_001267550.2:c.59337C>T (TTN) MANE Select | NP_001254479.2:p.Asp19779= | |
| NM_003319.4:c.32142C>T (TTN) | NP_003310.4:p.Asp10714= | |
| NM_133378.4:c.51633C>T (TTN) | NP_596869.4:p.Asp17211= | |
| NM_133432.3:c.32517C>T (TTN) | NP_597676.3:p.Asp10839= | |
| NM_133437.4:c.32718C>T (TTN) | NP_597681.4:p.Asp10906= | |
| NR_038271.1:n.597-4814G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1468G>A (TTN-AS1) | ||
| XM_011511729.1:c.58434C>T (TTN) | XP_011510031.1:p.Asp19478= | |
| XM_011511730.1:c.32328C>T (TTN) | XP_011510032.1:p.Asp10776= | |
| XM_011511731.1:c.32187C>T (TTN) | XP_011510033.1:p.Asp10729= | |
| XM_017004819.1:c.58230C>T (TTN) | XP_016860308.1:p.Asp19410= | |
| XM_017004820.1:c.53628C>T (TTN) | XP_016860309.1:p.Asp17876= | |
| XM_017004821.1:c.53625C>T (TTN) | XP_016860310.1:p.Asp17875= | |
| XM_017004822.1:c.50667C>T (TTN) | XP_016860311.1:p.Asp16889= | |
| XM_017004823.1:c.32283C>T (TTN) | XP_016860312.1:p.Asp10761= | |
| XM_024453094.1:c.53778C>T (TTN) | XP_024308862.1:p.Asp17926= | |
| XM_024453095.1:c.53775C>T (TTN) | XP_024308863.1:p.Asp17925= | |
| XM_024453096.1:c.53208C>T (TTN) | XP_024308864.1:p.Asp17736= | |
| XM_024453097.1:c.50550C>T (TTN) | XP_024308865.1:p.Asp16850= | |
| XM_024453098.1:c.50469C>T (TTN) | XP_024308866.1:p.Asp16823= | |
| XM_024453099.1:c.32232C>T (TTN) | XP_024308867.1:p.Asp10744= | |
| XM_024453100.1:c.22086C>T (TTN) | XP_024308868.1:p.Asp7362= |