Linked Data
ClinVar Variation Id:
1054242
ClinVar RCV Id:
RCV001362717
dbSNP Id:
rs780653482
ExAC:
22:36661202 A / T
gnomAD v2:
22-36661202-A-T
gnomAD v3:
22-36265156-A-T
gnomAD v4:
22-36265156-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265156A>T , CM000684.2:g.36265156A>T | GRCh38 |
| NC_000022.10:g.36661202A>T , CM000684.1:g.36661202A>T | GRCh37 |
| NC_000022.9:g.34991148A>T | NCBI36 |
| NG_023228.1:g.17086A>T , LRG_169:g.17086A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427990.6:c.320A>T | ENSP00000391302.2:p.Glu107Val | |
| ENST00000433768.6:c.*82A>T | ENSP00000392514.1:n.*82A>T | |
| ENST00000438034.6:c.407A>T | ENSP00000404525.2:p.Glu136Val | |
| ENST00000397278.8:c.320A>T MANE Select | ENSP00000380448.4:p.Glu107Val | |
| ENST00000319136.8:c.368A>T | ENSP00000317674.4:p.Glu123Val | |
| ENST00000397278.7:c.320A>T | ENSP00000380448.3:p.Glu107Val | |
| ENST00000397279.8:c.320A>T | ENSP00000380449.4:p.Glu107Val | |
| ENST00000422706.5:c.320A>T | ENSP00000411507.1:p.Glu107Val | |
| ENST00000426053.5:c.266A>T | ENSP00000388477.1:p.Glu89Val | |
| ENST00000427990.5:c.320A>T | ENSP00000391302.1:p.Glu107Val | |
| NM_001136540.1:c.320A>T | NP_001130012.1:p.Glu107Val | |
| NM_001136541.1:c.266A>T | NP_001130013.1:p.Glu89Val | |
| NM_003661.3:c.320A>T | NP_003652.2:p.Glu107Val | |
| NM_145343.2:c.368A>T , LRG_169t1:c.368A>T | NP_663318.1:p.Glu123Val | |
| XM_005261796.2:c.266A>T | XP_005261853.1:p.Glu89Val | |
| XM_011530478.1:c.-44A>T | XP_011528780.1:n.-44A>T | |
| NM_001362927.1:c.266A>T | NP_001349856.1:p.Glu89Val | |
| XM_011530478.2:c.-44A>T | XP_011528780.1:n.-44A>T | |
| NM_001362927.2:c.266A>T | NP_001349856.1:p.Glu89Val | |
| NM_003661.4:c.320A>T MANE Select | NP_003652.2:p.Glu107Val | |
| NM_001136540.2:c.320A>T | NP_001130012.1:p.Glu107Val | |
| NM_001136541.2:c.266A>T | NP_001130013.1:p.Glu89Val | |
| NM_145343.3:c.368A>T | NP_663318.1:p.Glu123Val |