Linked Data
ClinVar Variation Id:
8031
dbSNP Id:
rs267607072
gnomAD v4:
22-23787261-A-T
PubMed:
PMID:19582488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23787261A>T , CM000684.2:g.23787261A>T | GRCh38 |
| NC_000022.10:g.24129448A>T , CM000684.1:g.24129448A>T | GRCh37 |
| NC_000022.9:g.22459448A>T | NCBI36 |
| NG_009303.1:g.5299A>T , LRG_520:g.5299A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.92A>T | ENSP00000263121.8:p.Glu31Val | |
| ENST00000344921.11:c.92A>T | ENSP00000340883.6:p.Glu31Val | |
| ENST00000407082.4:c.92A>T | ENSP00000385226.4:p.Glu31Val | |
| ENST00000407422.8:c.92A>T | ENSP00000383984.3:p.Glu31Val | |
| ENST00000417137.6:c.92A>T | ENSP00000388489.2:p.Glu31Val | |
| ENST00000491967.2:n.282A>T | ||
| ENST00000643421.1:n.60A>T | ||
| ENST00000644036.2:c.92A>T MANE Select | ENSP00000494049.2:p.Glu31Val | |
| ENST00000644619.1:c.92A>T | ENSP00000494695.1:p.Glu31Val | |
| ENST00000646421.1:n.284A>T | ||
| ENST00000646723.1:n.80A>T | ||
| ENST00000646911.1:n.4A>T | ||
| ENST00000647057.1:c.92A>T | ENSP00000494757.1:p.Glu31Val | |
| ENST00000263121.11:c.92A>T | ENSP00000263121.7:p.Glu31Val | |
| ENST00000344921.10:c.92A>T | ENSP00000340883.6:p.Glu31Val | |
| ENST00000407082.3:c.92A>T | ENSP00000385226.3:p.Glu31Val | |
| ENST00000407422.7:c.92A>T | ENSP00000383984.3:p.Glu31Val | |
| ENST00000417137.5:c.92A>T | ENSP00000388489.1:p.Glu31Val | |
| NM_001007468.1:c.92A>T | NP_001007469.1:p.Glu31Val | |
| NM_003073.3:c.92A>T , LRG_520t1:c.92A>T | NP_003064.2:p.Glu31Val | |
| XM_011530345.1:c.92A>T | XP_011528647.1:p.Glu31Val | |
| XM_011530346.1:c.92A>T | XP_011528648.1:p.Glu31Val | |
| NM_001007468.2:c.92A>T | NP_001007469.1:p.Glu31Val | |
| NM_001317946.1:c.92A>T | NP_001304875.1:p.Glu31Val | |
| NM_001362877.1:c.92A>T | NP_001349806.1:p.Glu31Val | |
| NM_003073.4:c.92A>T | NP_003064.2:p.Glu31Val | |
| NM_001007468.3:c.92A>T | NP_001007469.1:p.Glu31Val | |
| NM_001317946.2:c.92A>T | NP_001304875.1:p.Glu31Val | |
| NM_001362877.2:c.92A>T | NP_001349806.1:p.Glu31Val | |
| NM_003073.5:c.92A>T MANE Select | NP_003064.2:p.Glu31Val |