Linked Data
ClinVar Variation Id:
849808
dbSNP Id:
rs776331587
ExAC:
17:7125363 A / G
gnomAD v2:
17-7125363-A-G
gnomAD v3:
17-7222044-A-G
gnomAD v4:
17-7222044-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222044A>G , CM000679.2:g.7222044A>G | GRCh38 |
| NC_000017.10:g.7125363A>G , CM000679.1:g.7125363A>G | GRCh37 |
| NC_000017.9:g.7066087A>G | NCBI36 |
| NG_007975.1:g.7211A>G | |
| NG_008391.2:g.3007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.715A>G MANE Select | ENSP00000349297.5:p.Lys239Glu | |
| ENST00000322910.9:c.*670A>G | ENSP00000325395.5:n.*670A>G | |
| ENST00000350303.9:c.649A>G | ENSP00000344152.5:p.Lys217Glu | |
| ENST00000356839.9:c.715A>G | ENSP00000349297.5:p.Lys239Glu | |
| ENST00000543245.6:c.784A>G | ENSP00000438689.2:p.Lys262Glu | |
| ENST00000577191.5:n.792A>G | ||
| ENST00000577857.5:n.531A>G | ||
| ENST00000579286.5:n.896A>G | ||
| ENST00000580365.1:n.446A>G | ||
| ENST00000581378.5:c.433A>G | ||
| ENST00000582379.1:n.99A>G | ||
| ENST00000583760.1:n.497A>G | ||
| NM_000018.3:c.715A>G | NP_000009.1:p.Lys239Glu | |
| NM_001033859.2:c.649A>G | NP_001029031.1:p.Lys217Glu | |
| NM_001270447.1:c.784A>G | NP_001257376.1:p.Lys262Glu | |
| NM_001270448.1:c.487A>G | NP_001257377.1:p.Lys163Glu | |
| XM_006721516.2:c.715A>G | XP_006721579.2:p.Lys239Glu | |
| XM_011523829.1:c.715A>G | XP_011522131.1:p.Lys239Glu | |
| XM_011523830.1:c.715A>G | XP_011522132.1:p.Lys239Glu | |
| XR_934021.1:n.822A>G | ||
| XR_934022.1:n.822A>G | ||
| XR_934023.1:n.822A>G | ||
| XM_006721516.3:c.715A>G | XP_006721579.2:p.Lys239Glu | |
| XM_011523829.2:c.715A>G | XP_011522131.1:p.Lys239Glu | |
| XM_011523830.2:c.715A>G | XP_011522132.1:p.Lys239Glu | |
| XM_024450741.1:c.715A>G | XP_024306509.1:p.Lys239Glu | |
| XR_934021.2:n.774A>G | ||
| XR_934022.2:n.774A>G | ||
| XR_934023.2:n.774A>G | ||
| NM_000018.4:c.715A>G MANE Select | NP_000009.1:p.Lys239Glu | |
| NM_001033859.3:c.649A>G | NP_001029031.1:p.Lys217Glu | |
| NM_001270447.2:c.784A>G | NP_001257376.1:p.Lys262Glu | |
| NM_001270448.2:c.487A>G | NP_001257377.1:p.Lys163Glu |