Linked Data
ClinVar Variation Id:
228165
ClinVar RCV Id:
RCV000219688
RCV000535204
RCV001133352
RCV001134820
RCV001133351
RCV001134818
RCV001134819
RCV001311946
dbSNP Id:
rs199891245
ExAC:
2:179413991 C / T
gnomAD v2:
2-179413991-C-T
gnomAD v3:
2-178549264-C-T
gnomAD v4:
2-178549264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549264C>T , CM000664.2:g.178549264C>T | GRCh38 |
| NC_000002.11:g.179413991C>T , CM000664.1:g.179413991C>T | GRCh37 |
| NC_000002.10:g.179122237C>T | NCBI36 |
| NG_011618.3:g.286539G>A , LRG_391:g.286539G>A | |
| NG_051363.1:g.31438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84658G>A (TTN) | ENSP00000343764.6:p.Gly28220Ser | |
| ENST00000342175.11:c.65743G>A (TTN) | ENSP00000340554.6:p.Gly21915Ser | |
| ENST00000359218.10:c.65542G>A (TTN) | ENSP00000352154.5:p.Gly21848Ser | |
| ENST00000342175.10:c.65743G>A (TTN) | ENSP00000340554.6:p.Gly21915Ser | |
| ENST00000342992.10:c.84658G>A (TTN) | ENSP00000343764.6:p.Gly28220Ser | |
| ENST00000359218.9:c.65542G>A (TTN) | ENSP00000352154.5:p.Gly21848Ser | |
| ENST00000460472.6:c.65167G>A (TTN) | ENSP00000434586.1:p.Gly21723Ser | |
| ENST00000589042.5:c.92362G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly30788Ser | |
| ENST00000591111.5:c.87439G>A (TTN) | ENSP00000465570.1:p.Gly29147Ser | |
| ENST00000615779.4:c.87439G>A (TTN) | ENSP00000483597.1:p.Gly29147Ser | |
| NM_001256850.1:c.87439G>A (TTN) | NP_001243779.1:p.Gly29147Ser | |
| NM_001267550.2:c.92362G>A (TTN) MANE Select | NP_001254479.2:p.Gly30788Ser | |
| NM_003319.4:c.65167G>A (TTN) | NP_003310.4:p.Gly21723Ser | |
| NM_133378.4:c.84658G>A (TTN) | NP_596869.4:p.Gly28220Ser | |
| NM_133432.3:c.65542G>A (TTN) | NP_597676.3:p.Gly21848Ser | |
| NM_133437.4:c.65743G>A (TTN) | NP_597681.4:p.Gly21915Ser | |
| NR_038271.1:n.447-22036C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6903C>T (TTN-AS1) | ||
| XM_011511729.1:c.91459G>A (TTN) | XP_011510031.1:p.Gly30487Ser | |
| XM_011511730.1:c.65353G>A (TTN) | XP_011510032.1:p.Gly21785Ser | |
| XM_011511731.1:c.65212G>A (TTN) | XP_011510033.1:p.Gly21738Ser | |
| XM_017004819.1:c.91255G>A (TTN) | XP_016860308.1:p.Gly30419Ser | |
| XM_017004820.1:c.86653G>A (TTN) | XP_016860309.1:p.Gly28885Ser | |
| XM_017004821.1:c.86650G>A (TTN) | XP_016860310.1:p.Gly28884Ser | |
| XM_017004822.1:c.83692G>A (TTN) | XP_016860311.1:p.Gly27898Ser | |
| XM_017004823.1:c.65308G>A (TTN) | XP_016860312.1:p.Gly21770Ser | |
| XM_024453094.1:c.86803G>A (TTN) | XP_024308862.1:p.Gly28935Ser | |
| XM_024453095.1:c.86800G>A (TTN) | XP_024308863.1:p.Gly28934Ser | |
| XM_024453096.1:c.86233G>A (TTN) | XP_024308864.1:p.Gly28745Ser | |
| XM_024453097.1:c.83575G>A (TTN) | XP_024308865.1:p.Gly27859Ser | |
| XM_024453098.1:c.83494G>A (TTN) | XP_024308866.1:p.Gly27832Ser | |
| XM_024453099.1:c.65257G>A (TTN) | XP_024308867.1:p.Gly21753Ser | |
| XM_024453100.1:c.55111G>A (TTN) | XP_024308868.1:p.Gly18371Ser |