Linked Data
ClinVar Variation Id:
47312
ClinVar RCV Id:
RCV000040582
RCV000285232
RCV000334264
RCV000310657
RCV000396450
RCV000403418
RCV001083817
RCV000725033
RCV001170337
RCV002336144
RCV004541174
dbSNP Id:
rs149763294
ExAC:
2:179438480 C / T
gnomAD v2:
2-179438480-C-T
gnomAD v3:
2-178573753-C-T
gnomAD v4:
2-178573753-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573753C>T , CM000664.2:g.178573753C>T | GRCh38 |
| NC_000002.11:g.179438480C>T , CM000664.1:g.179438480C>T | GRCh37 |
| NC_000002.10:g.179146726C>T | NCBI36 |
| NG_011618.3:g.262050G>A , LRG_391:g.262050G>A | |
| NG_051363.1:g.55927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64675G>A (TTN) | ENSP00000343764.6:p.Glu21559Lys | |
| ENST00000342175.11:c.45760G>A (TTN) | ENSP00000340554.6:p.Glu15254Lys | |
| ENST00000359218.10:c.45559G>A (TTN) | ENSP00000352154.5:p.Glu15187Lys | |
| ENST00000342175.10:c.45760G>A (TTN) | ENSP00000340554.6:p.Glu15254Lys | |
| ENST00000342992.10:c.64675G>A (TTN) | ENSP00000343764.6:p.Glu21559Lys | |
| ENST00000359218.9:c.45559G>A (TTN) | ENSP00000352154.5:p.Glu15187Lys | |
| ENST00000460472.6:c.45184G>A (TTN) | ENSP00000434586.1:p.Glu15062Lys | |
| ENST00000589042.5:c.72379G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu24127Lys | |
| ENST00000591111.5:c.67456G>A (TTN) | ENSP00000465570.1:p.Glu22486Lys | |
| ENST00000615779.4:c.67456G>A (TTN) | ENSP00000483597.1:p.Glu22486Lys | |
| NM_001256850.1:c.67456G>A (TTN) | NP_001243779.1:p.Glu22486Lys | |
| NM_001267550.2:c.72379G>A (TTN) MANE Select | NP_001254479.2:p.Glu24127Lys | |
| NM_003319.4:c.45184G>A (TTN) | NP_003310.4:p.Glu15062Lys | |
| NM_133378.4:c.64675G>A (TTN) | NP_596869.4:p.Glu21559Lys | |
| NM_133432.3:c.45559G>A (TTN) | NP_597676.3:p.Glu15187Lys | |
| NM_133437.4:c.45760G>A (TTN) | NP_597681.4:p.Glu15254Lys | |
| NR_038271.1:n.596+2304C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8819C>T (TTN-AS1) | ||
| XM_011511729.1:c.71476G>A (TTN) | XP_011510031.1:p.Glu23826Lys | |
| XM_011511730.1:c.45370G>A (TTN) | XP_011510032.1:p.Glu15124Lys | |
| XM_011511731.1:c.45229G>A (TTN) | XP_011510033.1:p.Glu15077Lys | |
| XM_017004819.1:c.71272G>A (TTN) | XP_016860308.1:p.Glu23758Lys | |
| XM_017004820.1:c.66670G>A (TTN) | XP_016860309.1:p.Glu22224Lys | |
| XM_017004821.1:c.66667G>A (TTN) | XP_016860310.1:p.Glu22223Lys | |
| XM_017004822.1:c.63709G>A (TTN) | XP_016860311.1:p.Glu21237Lys | |
| XM_017004823.1:c.45325G>A (TTN) | XP_016860312.1:p.Glu15109Lys | |
| XM_024453094.1:c.66820G>A (TTN) | XP_024308862.1:p.Glu22274Lys | |
| XM_024453095.1:c.66817G>A (TTN) | XP_024308863.1:p.Glu22273Lys | |
| XM_024453096.1:c.66250G>A (TTN) | XP_024308864.1:p.Glu22084Lys | |
| XM_024453097.1:c.63592G>A (TTN) | XP_024308865.1:p.Glu21198Lys | |
| XM_024453098.1:c.63511G>A (TTN) | XP_024308866.1:p.Glu21171Lys | |
| XM_024453099.1:c.45274G>A (TTN) | XP_024308867.1:p.Glu15092Lys | |
| XM_024453100.1:c.35128G>A (TTN) | XP_024308868.1:p.Glu11710Lys |