Linked Data
ClinVar Variation Id:
332753
ClinVar RCV Id:
RCV002521345
RCV000310652
RCV000314665
RCV000344977
RCV000341023
RCV000390560
RCV000390984
dbSNP Id:
rs760755965
ExAC:
2:179427267 G / C
gnomAD v2:
2-179427267-G-C
gnomAD v4:
2-178562540-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562540G>C , CM000664.2:g.178562540G>C | GRCh38 |
| NC_000002.11:g.179427267G>C , CM000664.1:g.179427267G>C | GRCh37 |
| NC_000002.10:g.179135513G>C | NCBI36 |
| NG_011618.3:g.273263C>G , LRG_391:g.273263C>G | |
| NG_051363.1:g.44714G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75888C>G (TTN) | ENSP00000343764.6:p.Pro25296= | |
| ENST00000342175.11:c.56973C>G (TTN) | ENSP00000340554.6:p.Pro18991= | |
| ENST00000359218.10:c.56772C>G (TTN) | ENSP00000352154.5:p.Pro18924= | |
| ENST00000342175.10:c.56973C>G (TTN) | ENSP00000340554.6:p.Pro18991= | |
| ENST00000342992.10:c.75888C>G (TTN) | ENSP00000343764.6:p.Pro25296= | |
| ENST00000359218.9:c.56772C>G (TTN) | ENSP00000352154.5:p.Pro18924= | |
| ENST00000460472.6:c.56397C>G (TTN) | ENSP00000434586.1:p.Pro18799= | |
| ENST00000589042.5:c.83592C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro27864= | |
| ENST00000591111.5:c.78669C>G (TTN) | ENSP00000465570.1:p.Pro26223= | |
| ENST00000615779.4:c.78669C>G (TTN) | ENSP00000483597.1:p.Pro26223= | |
| NM_001256850.1:c.78669C>G (TTN) | NP_001243779.1:p.Pro26223= | |
| NM_001267550.2:c.83592C>G (TTN) MANE Select | NP_001254479.2:p.Pro27864= | |
| NM_003319.4:c.56397C>G (TTN) | NP_003310.4:p.Pro18799= | |
| NM_133378.4:c.75888C>G (TTN) | NP_596869.4:p.Pro25296= | |
| NM_133432.3:c.56772C>G (TTN) | NP_597676.3:p.Pro18924= | |
| NM_133437.4:c.56973C>G (TTN) | NP_597681.4:p.Pro18991= | |
| NR_038271.1:n.447-8760G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-20032G>C (TTN-AS1) | ||
| XM_011511729.1:c.82689C>G (TTN) | XP_011510031.1:p.Pro27563= | |
| XM_011511730.1:c.56583C>G (TTN) | XP_011510032.1:p.Pro18861= | |
| XM_011511731.1:c.56442C>G (TTN) | XP_011510033.1:p.Pro18814= | |
| XM_017004819.1:c.82485C>G (TTN) | XP_016860308.1:p.Pro27495= | |
| XM_017004820.1:c.77883C>G (TTN) | XP_016860309.1:p.Pro25961= | |
| XM_017004821.1:c.77880C>G (TTN) | XP_016860310.1:p.Pro25960= | |
| XM_017004822.1:c.74922C>G (TTN) | XP_016860311.1:p.Pro24974= | |
| XM_017004823.1:c.56538C>G (TTN) | XP_016860312.1:p.Pro18846= | |
| XM_024453094.1:c.78033C>G (TTN) | XP_024308862.1:p.Pro26011= | |
| XM_024453095.1:c.78030C>G (TTN) | XP_024308863.1:p.Pro26010= | |
| XM_024453096.1:c.77463C>G (TTN) | XP_024308864.1:p.Pro25821= | |
| XM_024453097.1:c.74805C>G (TTN) | XP_024308865.1:p.Pro24935= | |
| XM_024453098.1:c.74724C>G (TTN) | XP_024308866.1:p.Pro24908= | |
| XM_024453099.1:c.56487C>G (TTN) | XP_024308867.1:p.Pro18829= | |
| XM_024453100.1:c.46341C>G (TTN) | XP_024308868.1:p.Pro15447= |