Linked Data
ClinVar Variation Id:
165751
ClinVar RCV Id:
RCV000152190
RCV000246520
RCV000470539
RCV001130318
RCV001130319
RCV001130320
RCV001130321
RCV001130322
RCV003456357
dbSNP Id:
rs199505541
ExAC:
2:179416454 T / G
gnomAD v2:
2-179416454-T-G
gnomAD v3:
2-178551727-T-G
gnomAD v4:
2-178551727-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551727T>G , CM000664.2:g.178551727T>G | GRCh38 |
| NC_000002.11:g.179416454T>G , CM000664.1:g.179416454T>G | GRCh37 |
| NC_000002.10:g.179124700T>G | NCBI36 |
| NG_011618.3:g.284076A>C , LRG_391:g.284076A>C | |
| NG_051363.1:g.33901T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83469A>C (TTN) | ENSP00000343764.6:p.Glu27823Asp | |
| ENST00000342175.11:c.64554A>C (TTN) | ENSP00000340554.6:p.Glu21518Asp | |
| ENST00000359218.10:c.64353A>C (TTN) | ENSP00000352154.5:p.Glu21451Asp | |
| ENST00000342175.10:c.64554A>C (TTN) | ENSP00000340554.6:p.Glu21518Asp | |
| ENST00000342992.10:c.83469A>C (TTN) | ENSP00000343764.6:p.Glu27823Asp | |
| ENST00000359218.9:c.64353A>C (TTN) | ENSP00000352154.5:p.Glu21451Asp | |
| ENST00000460472.6:c.63978A>C (TTN) | ENSP00000434586.1:p.Glu21326Asp | |
| ENST00000589042.5:c.91173A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu30391Asp | |
| ENST00000591111.5:c.86250A>C (TTN) | ENSP00000465570.1:p.Glu28750Asp | |
| ENST00000615779.4:c.86250A>C (TTN) | ENSP00000483597.1:p.Glu28750Asp | |
| NM_001256850.1:c.86250A>C (TTN) | NP_001243779.1:p.Glu28750Asp | |
| NM_001267550.2:c.91173A>C (TTN) MANE Select | NP_001254479.2:p.Glu30391Asp | |
| NM_003319.4:c.63978A>C (TTN) | NP_003310.4:p.Glu21326Asp | |
| NM_133378.4:c.83469A>C (TTN) | NP_596869.4:p.Glu27823Asp | |
| NM_133432.3:c.64353A>C (TTN) | NP_597676.3:p.Glu21451Asp | |
| NM_133437.4:c.64554A>C (TTN) | NP_597681.4:p.Glu21518Asp | |
| NR_038271.1:n.447-19573T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9366T>G (TTN-AS1) | ||
| XM_011511729.1:c.90270A>C (TTN) | XP_011510031.1:p.Glu30090Asp | |
| XM_011511730.1:c.64164A>C (TTN) | XP_011510032.1:p.Glu21388Asp | |
| XM_011511731.1:c.64023A>C (TTN) | XP_011510033.1:p.Glu21341Asp | |
| XM_017004819.1:c.90066A>C (TTN) | XP_016860308.1:p.Glu30022Asp | |
| XM_017004820.1:c.85464A>C (TTN) | XP_016860309.1:p.Glu28488Asp | |
| XM_017004821.1:c.85461A>C (TTN) | XP_016860310.1:p.Glu28487Asp | |
| XM_017004822.1:c.82503A>C (TTN) | XP_016860311.1:p.Glu27501Asp | |
| XM_017004823.1:c.64119A>C (TTN) | XP_016860312.1:p.Glu21373Asp | |
| XM_024453094.1:c.85614A>C (TTN) | XP_024308862.1:p.Glu28538Asp | |
| XM_024453095.1:c.85611A>C (TTN) | XP_024308863.1:p.Glu28537Asp | |
| XM_024453096.1:c.85044A>C (TTN) | XP_024308864.1:p.Glu28348Asp | |
| XM_024453097.1:c.82386A>C (TTN) | XP_024308865.1:p.Glu27462Asp | |
| XM_024453098.1:c.82305A>C (TTN) | XP_024308866.1:p.Glu27435Asp | |
| XM_024453099.1:c.64068A>C (TTN) | XP_024308867.1:p.Glu21356Asp | |
| XM_024453100.1:c.53922A>C (TTN) | XP_024308868.1:p.Glu17974Asp |