Linked Data
ClinVar Variation Id:
437093
ClinVar RCV Id:
RCV000499867
RCV000643358
RCV001134119
RCV001134121
RCV001134120
RCV001134122
RCV001134123
RCV002455975
dbSNP Id:
rs188059075
ExAC:
2:179453773 G / A
gnomAD v2:
2-179453773-G-A
gnomAD v3:
2-178589046-G-A
gnomAD v4:
2-178589046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589046G>A , CM000664.2:g.178589046G>A | GRCh38 |
| NC_000002.11:g.179453773G>A , CM000664.1:g.179453773G>A | GRCh37 |
| NC_000002.10:g.179162019G>A | NCBI36 |
| NG_011618.3:g.246757C>T , LRG_391:g.246757C>T | |
| NG_051363.1:g.71220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54975C>T (TTN) | ENSP00000343764.6:p.Gly18325= | |
| ENST00000342175.11:c.36060C>T (TTN) | ENSP00000340554.6:p.Gly12020= | |
| ENST00000359218.10:c.35859C>T (TTN) | ENSP00000352154.5:p.Gly11953= | |
| ENST00000342175.10:c.36060C>T (TTN) | ENSP00000340554.6:p.Gly12020= | |
| ENST00000342992.10:c.54975C>T (TTN) | ENSP00000343764.6:p.Gly18325= | |
| ENST00000359218.9:c.35859C>T (TTN) | ENSP00000352154.5:p.Gly11953= | |
| ENST00000460472.6:c.35484C>T (TTN) | ENSP00000434586.1:p.Gly11828= | |
| ENST00000589042.5:c.62679C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly20893= | |
| ENST00000591111.5:c.57756C>T (TTN) | ENSP00000465570.1:p.Gly19252= | |
| ENST00000615779.4:c.57756C>T (TTN) | ENSP00000483597.1:p.Gly19252= | |
| NM_001256850.1:c.57756C>T (TTN) | NP_001243779.1:p.Gly19252= | |
| NM_001267550.2:c.62679C>T (TTN) MANE Select | NP_001254479.2:p.Gly20893= | |
| NM_003319.4:c.35484C>T (TTN) | NP_003310.4:p.Gly11828= | |
| NM_133378.4:c.54975C>T (TTN) | NP_596869.4:p.Gly18325= | |
| NM_133432.3:c.35859C>T (TTN) | NP_597676.3:p.Gly11953= | |
| NM_133437.4:c.36060C>T (TTN) | NP_597681.4:p.Gly12020= | |
| NR_038271.1:n.597-8550G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-2093G>A (TTN-AS1) | ||
| XM_011511729.1:c.61776C>T (TTN) | XP_011510031.1:p.Gly20592= | |
| XM_011511730.1:c.35670C>T (TTN) | XP_011510032.1:p.Gly11890= | |
| XM_011511731.1:c.35529C>T (TTN) | XP_011510033.1:p.Gly11843= | |
| XM_017004819.1:c.61572C>T (TTN) | XP_016860308.1:p.Gly20524= | |
| XM_017004820.1:c.56970C>T (TTN) | XP_016860309.1:p.Gly18990= | |
| XM_017004821.1:c.56967C>T (TTN) | XP_016860310.1:p.Gly18989= | |
| XM_017004822.1:c.54009C>T (TTN) | XP_016860311.1:p.Gly18003= | |
| XM_017004823.1:c.35625C>T (TTN) | XP_016860312.1:p.Gly11875= | |
| XM_024453094.1:c.57120C>T (TTN) | XP_024308862.1:p.Gly19040= | |
| XM_024453095.1:c.57117C>T (TTN) | XP_024308863.1:p.Gly19039= | |
| XM_024453096.1:c.56550C>T (TTN) | XP_024308864.1:p.Gly18850= | |
| XM_024453097.1:c.53892C>T (TTN) | XP_024308865.1:p.Gly17964= | |
| XM_024453098.1:c.53811C>T (TTN) | XP_024308866.1:p.Gly17937= | |
| XM_024453099.1:c.35574C>T (TTN) | XP_024308867.1:p.Gly11858= | |
| XM_024453100.1:c.25428C>T (TTN) | XP_024308868.1:p.Gly8476= |