Linked Data
ClinVar Variation Id:
196155
dbSNP Id:
rs373900294
ExAC:
2:179415824 T / G
gnomAD v2:
2-179415824-T-G
gnomAD v3:
2-178551097-T-G
gnomAD v4:
2-178551097-T-G
COSMIC:
COSM99034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551097T>G , CM000664.2:g.178551097T>G | GRCh38 |
| NC_000002.11:g.179415824T>G , CM000664.1:g.179415824T>G | GRCh37 |
| NC_000002.10:g.179124070T>G | NCBI36 |
| NG_011618.3:g.284706A>C , LRG_391:g.284706A>C | |
| NG_051363.1:g.33271T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83730A>C (TTN) | ENSP00000343764.6:p.Glu27910Asp | |
| ENST00000342175.11:c.64815A>C (TTN) | ENSP00000340554.6:p.Glu21605Asp | |
| ENST00000359218.10:c.64614A>C (TTN) | ENSP00000352154.5:p.Glu21538Asp | |
| ENST00000342175.10:c.64815A>C (TTN) | ENSP00000340554.6:p.Glu21605Asp | |
| ENST00000342992.10:c.83730A>C (TTN) | ENSP00000343764.6:p.Glu27910Asp | |
| ENST00000359218.9:c.64614A>C (TTN) | ENSP00000352154.5:p.Glu21538Asp | |
| ENST00000460472.6:c.64239A>C (TTN) | ENSP00000434586.1:p.Glu21413Asp | |
| ENST00000589042.5:c.91434A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu30478Asp | |
| ENST00000591111.5:c.86511A>C (TTN) | ENSP00000465570.1:p.Glu28837Asp | |
| ENST00000615779.4:c.86511A>C (TTN) | ENSP00000483597.1:p.Glu28837Asp | |
| NM_001256850.1:c.86511A>C (TTN) | NP_001243779.1:p.Glu28837Asp | |
| NM_001267550.2:c.91434A>C (TTN) MANE Select | NP_001254479.2:p.Glu30478Asp | |
| NM_003319.4:c.64239A>C (TTN) | NP_003310.4:p.Glu21413Asp | |
| NM_133378.4:c.83730A>C (TTN) | NP_596869.4:p.Glu27910Asp | |
| NM_133432.3:c.64614A>C (TTN) | NP_597676.3:p.Glu21538Asp | |
| NM_133437.4:c.64815A>C (TTN) | NP_597681.4:p.Glu21605Asp | |
| NR_038271.1:n.447-20203T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+8736T>G (TTN-AS1) | ||
| XM_011511729.1:c.90531A>C (TTN) | XP_011510031.1:p.Glu30177Asp | |
| XM_011511730.1:c.64425A>C (TTN) | XP_011510032.1:p.Glu21475Asp | |
| XM_011511731.1:c.64284A>C (TTN) | XP_011510033.1:p.Glu21428Asp | |
| XM_017004819.1:c.90327A>C (TTN) | XP_016860308.1:p.Glu30109Asp | |
| XM_017004820.1:c.85725A>C (TTN) | XP_016860309.1:p.Glu28575Asp | |
| XM_017004821.1:c.85722A>C (TTN) | XP_016860310.1:p.Glu28574Asp | |
| XM_017004822.1:c.82764A>C (TTN) | XP_016860311.1:p.Glu27588Asp | |
| XM_017004823.1:c.64380A>C (TTN) | XP_016860312.1:p.Glu21460Asp | |
| XM_024453094.1:c.85875A>C (TTN) | XP_024308862.1:p.Glu28625Asp | |
| XM_024453095.1:c.85872A>C (TTN) | XP_024308863.1:p.Glu28624Asp | |
| XM_024453096.1:c.85305A>C (TTN) | XP_024308864.1:p.Glu28435Asp | |
| XM_024453097.1:c.82647A>C (TTN) | XP_024308865.1:p.Glu27549Asp | |
| XM_024453098.1:c.82566A>C (TTN) | XP_024308866.1:p.Glu27522Asp | |
| XM_024453099.1:c.64329A>C (TTN) | XP_024308867.1:p.Glu21443Asp | |
| XM_024453100.1:c.54183A>C (TTN) | XP_024308868.1:p.Glu18061Asp |