Linked Data
ClinVar Variation Id:
795772
dbSNP Id:
rs1596273696
MyVariant Identifiers:
chr15:g.91354589A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811359A>G , CM000677.2:g.90811359A>G | GRCh38 |
| NC_000015.9:g.91354589A>G , CM000677.1:g.91354589A>G | GRCh37 |
| NC_000015.8:g.89155593A>G | NCBI36 |
| NG_007272.1:g.98988A>G , LRG_20:g.98988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4029A>G MANE Select | ENSP00000347232.3:p.Gln1343= | |
| ENST00000560559.2:n.2602A>G | ||
| ENST00000648453.1:c.4029A>G | ENSP00000497646.1:p.Gln1343= | |
| ENST00000680772.1:c.4029A>G | ENSP00000506117.1:p.Gln1343= | |
| ENST00000681142.1:c.4029A>G | ENSP00000506682.1:p.Gln1343= | |
| ENST00000355112.7:c.4029A>G | ENSP00000347232.3:p.Gln1343= | |
| ENST00000558825.5:n.1376A>G | ||
| ENST00000559724.5:c.*2953A>G | ENSP00000453359.1:n.*2953A>G | |
| ENST00000560509.5:c.3636A>G | ENSP00000454158.1:p.Gln1212= | |
| ENST00000560821.1:n.449A>G | ||
| NM_000057.3:c.4029A>G | NP_000048.1:p.Gln1343= | |
| NM_001287246.1:c.4029A>G | NP_001274175.1:p.Gln1343= | |
| NM_001287247.1:c.3636A>G | NP_001274176.1:p.Gln1212= | |
| NM_001287248.1:c.2904A>G | NP_001274177.1:p.Gln968= | |
| XM_006720632.2:c.2067A>G | XP_006720695.1:p.Gln689= | |
| XM_011521881.1:c.2715A>G | XP_011520183.1:p.Gln905= | |
| XM_011521881.2:c.2715A>G | XP_011520183.1:p.Gln905= | |
| NM_000057.4:c.4029A>G MANE Select | NP_000048.1:p.Gln1343= | |
| NM_001287246.2:c.4029A>G | NP_001274175.1:p.Gln1343= | |
| NM_001287247.2:c.3636A>G | NP_001274176.1:p.Gln1212= | |
| NM_001287248.2:c.2904A>G | NP_001274177.1:p.Gln968= |