Linked Data
ClinVar Variation Id:
47237
dbSNP Id:
rs397517664
ExAC:
2:179446377 G / T
gnomAD v2:
2-179446377-G-T
gnomAD v4:
2-178581650-G-T
PubMed:
PMID:22335739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581650G>T , CM000664.2:g.178581650G>T | GRCh38 |
| NC_000002.11:g.179446377G>T , CM000664.1:g.179446377G>T | GRCh37 |
| NC_000002.10:g.179154623G>T | NCBI36 |
| NG_011618.3:g.254153C>A , LRG_391:g.254153C>A | |
| NG_051363.1:g.63824G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58914C>A (TTN) | ENSP00000343764.6:p.Cys19638Ter | |
| ENST00000342175.11:c.39999C>A (TTN) | ENSP00000340554.6:p.Cys13333Ter | |
| ENST00000359218.10:c.39798C>A (TTN) | ENSP00000352154.5:p.Cys13266Ter | |
| ENST00000342175.10:c.39999C>A (TTN) | ENSP00000340554.6:p.Cys13333Ter | |
| ENST00000342992.10:c.58914C>A (TTN) | ENSP00000343764.6:p.Cys19638Ter | |
| ENST00000359218.9:c.39798C>A (TTN) | ENSP00000352154.5:p.Cys13266Ter | |
| ENST00000460472.6:c.39423C>A (TTN) | ENSP00000434586.1:p.Cys13141Ter | |
| ENST00000589042.5:c.66618C>A (TTN) MANE Select | ENSP00000467141.1:p.Cys22206Ter | |
| ENST00000591111.5:c.61695C>A (TTN) | ENSP00000465570.1:p.Cys20565Ter | |
| ENST00000615779.4:c.61695C>A (TTN) | ENSP00000483597.1:p.Cys20565Ter | |
| NM_001256850.1:c.61695C>A (TTN) | NP_001243779.1:p.Cys20565Ter | |
| NM_001267550.2:c.66618C>A (TTN) MANE Select | NP_001254479.2:p.Cys22206Ter | |
| NM_003319.4:c.39423C>A (TTN) | NP_003310.4:p.Cys13141Ter | |
| NM_133378.4:c.58914C>A (TTN) | NP_596869.4:p.Cys19638Ter | |
| NM_133432.3:c.39798C>A (TTN) | NP_597676.3:p.Cys13266Ter | |
| NM_133437.4:c.39999C>A (TTN) | NP_597681.4:p.Cys13333Ter | |
| NR_038271.1:n.596+10201G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-922G>T (TTN-AS1) | ||
| XM_011511729.1:c.65715C>A (TTN) | XP_011510031.1:p.Cys21905Ter | |
| XM_011511730.1:c.39609C>A (TTN) | XP_011510032.1:p.Cys13203Ter | |
| XM_011511731.1:c.39468C>A (TTN) | XP_011510033.1:p.Cys13156Ter | |
| XM_017004819.1:c.65511C>A (TTN) | XP_016860308.1:p.Cys21837Ter | |
| XM_017004820.1:c.60909C>A (TTN) | XP_016860309.1:p.Cys20303Ter | |
| XM_017004821.1:c.60906C>A (TTN) | XP_016860310.1:p.Cys20302Ter | |
| XM_017004822.1:c.57948C>A (TTN) | XP_016860311.1:p.Cys19316Ter | |
| XM_017004823.1:c.39564C>A (TTN) | XP_016860312.1:p.Cys13188Ter | |
| XM_024453094.1:c.61059C>A (TTN) | XP_024308862.1:p.Cys20353Ter | |
| XM_024453095.1:c.61056C>A (TTN) | XP_024308863.1:p.Cys20352Ter | |
| XM_024453096.1:c.60489C>A (TTN) | XP_024308864.1:p.Cys20163Ter | |
| XM_024453097.1:c.57831C>A (TTN) | XP_024308865.1:p.Cys19277Ter | |
| XM_024453098.1:c.57750C>A (TTN) | XP_024308866.1:p.Cys19250Ter | |
| XM_024453099.1:c.39513C>A (TTN) | XP_024308867.1:p.Cys13171Ter | |
| XM_024453100.1:c.29367C>A (TTN) | XP_024308868.1:p.Cys9789Ter |