Linked Data
ClinVar Variation Id:
47026
ClinVar RCV Id:
RCV000040296
RCV000254204
RCV000272603
RCV000323763
RCV000325333
RCV000376593
RCV000471494
RCV000382317
RCV001795025
dbSNP Id:
rs72677244
ExAC:
2:179479245 C / T
gnomAD v2:
2-179479245-C-T
gnomAD v3:
2-178614518-C-T
gnomAD v4:
2-178614518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614518C>T , CM000664.2:g.178614518C>T | GRCh38 |
| NC_000002.11:g.179479245C>T , CM000664.1:g.179479245C>T | GRCh37 |
| NC_000002.10:g.179187490C>T | NCBI36 |
| NG_011618.3:g.221285G>A , LRG_391:g.221285G>A | |
| NG_051363.1:g.96692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41292G>A (TTN) | ENSP00000343764.6:p.Glu13764= | |
| ENST00000342175.11:c.22377G>A (TTN) | ENSP00000340554.6:p.Glu7459= | |
| ENST00000359218.10:c.22176G>A (TTN) | ENSP00000352154.5:p.Glu7392= | |
| ENST00000342175.10:c.22377G>A (TTN) | ENSP00000340554.6:p.Glu7459= | |
| ENST00000342992.10:c.41292G>A (TTN) | ENSP00000343764.6:p.Glu13764= | |
| ENST00000359218.9:c.22176G>A (TTN) | ENSP00000352154.5:p.Glu7392= | |
| ENST00000460472.6:c.21801G>A (TTN) | ENSP00000434586.1:p.Glu7267= | |
| ENST00000589042.5:c.48996G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu16332= | |
| ENST00000591111.5:c.44073G>A (TTN) | ENSP00000465570.1:p.Glu14691= | |
| ENST00000615779.4:c.44073G>A (TTN) | ENSP00000483597.1:p.Glu14691= | |
| NM_001256850.1:c.44073G>A (TTN) | NP_001243779.1:p.Glu14691= | |
| NM_001267550.2:c.48996G>A (TTN) MANE Select | NP_001254479.2:p.Glu16332= | |
| NM_003319.4:c.21801G>A (TTN) | NP_003310.4:p.Glu7267= | |
| NM_133378.4:c.41292G>A (TTN) | NP_596869.4:p.Glu13764= | |
| NM_133432.3:c.22176G>A (TTN) | NP_597676.3:p.Glu7392= | |
| NM_133437.4:c.22377G>A (TTN) | NP_597681.4:p.Glu7459= | |
| NR_038271.1:n.1266C>T (TTN-AS1) | ||
| XM_011511729.1:c.48093G>A (TTN) | XP_011510031.1:p.Glu16031= | |
| XM_011511730.1:c.21987G>A (TTN) | XP_011510032.1:p.Glu7329= | |
| XM_011511731.1:c.21846G>A (TTN) | XP_011510033.1:p.Glu7282= | |
| XM_017004819.1:c.47889G>A (TTN) | XP_016860308.1:p.Glu15963= | |
| XM_017004820.1:c.43287G>A (TTN) | XP_016860309.1:p.Glu14429= | |
| XM_017004821.1:c.43284G>A (TTN) | XP_016860310.1:p.Glu14428= | |
| XM_017004822.1:c.40326G>A (TTN) | XP_016860311.1:p.Glu13442= | |
| XM_017004823.1:c.21942G>A (TTN) | XP_016860312.1:p.Glu7314= | |
| XM_024453094.1:c.43437G>A (TTN) | XP_024308862.1:p.Glu14479= | |
| XM_024453095.1:c.43434G>A (TTN) | XP_024308863.1:p.Glu14478= | |
| XM_024453096.1:c.42867G>A (TTN) | XP_024308864.1:p.Glu14289= | |
| XM_024453097.1:c.40209G>A (TTN) | XP_024308865.1:p.Glu13403= | |
| XM_024453098.1:c.40128G>A (TTN) | XP_024308866.1:p.Glu13376= | |
| XM_024453099.1:c.21891G>A (TTN) | XP_024308867.1:p.Glu7297= | |
| XM_024453100.1:c.11745G>A (TTN) | XP_024308868.1:p.Glu3915= |