Linked Data
ClinVar Variation Id:
385582
dbSNP Id:
rs148073142
ExAC:
17:7125502 G / A
gnomAD v2:
17-7125502-G-A
gnomAD v3:
17-7222183-G-A
gnomAD v4:
17-7222183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222183G>A , CM000679.2:g.7222183G>A | GRCh38 |
| NC_000017.10:g.7125502G>A , CM000679.1:g.7125502G>A | GRCh37 |
| NC_000017.9:g.7066226G>A | NCBI36 |
| NG_007975.1:g.7350G>A | |
| NG_008391.2:g.2868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.759G>A MANE Select | ENSP00000349297.5:p.Gly253= | |
| ENST00000322910.9:c.*714G>A | ENSP00000325395.5:n.*714G>A | |
| ENST00000350303.9:c.693G>A | ENSP00000344152.5:p.Gly231= | |
| ENST00000356839.9:c.759G>A | ENSP00000349297.5:p.Gly253= | |
| ENST00000543245.6:c.828G>A | ENSP00000438689.2:p.Gly276= | |
| ENST00000577191.5:n.931G>A | ||
| ENST00000581378.5:c.477G>A | ||
| ENST00000582379.1:n.143G>A | ||
| NM_000018.3:c.759G>A | NP_000009.1:p.Gly253= | |
| NM_001033859.2:c.693G>A | NP_001029031.1:p.Gly231= | |
| NM_001270447.1:c.828G>A | NP_001257376.1:p.Gly276= | |
| NM_001270448.1:c.531G>A | NP_001257377.1:p.Gly177= | |
| XM_006721516.2:c.759G>A | XP_006721579.2:p.Gly253= | |
| XM_011523829.1:c.759G>A | XP_011522131.1:p.Gly253= | |
| XM_011523830.1:c.759G>A | XP_011522132.1:p.Gly253= | |
| XR_934021.1:n.866G>A | ||
| XR_934022.1:n.866G>A | ||
| XR_934023.1:n.866G>A | ||
| XM_006721516.3:c.759G>A | XP_006721579.2:p.Gly253= | |
| XM_011523829.2:c.759G>A | XP_011522131.1:p.Gly253= | |
| XM_011523830.2:c.759G>A | XP_011522132.1:p.Gly253= | |
| XM_024450741.1:c.759G>A | XP_024306509.1:p.Gly253= | |
| XR_934021.2:n.818G>A | ||
| XR_934022.2:n.818G>A | ||
| XR_934023.2:n.818G>A | ||
| NM_000018.4:c.759G>A MANE Select | NP_000009.1:p.Gly253= | |
| NM_001033859.3:c.693G>A | NP_001029031.1:p.Gly231= | |
| NM_001270447.2:c.828G>A | NP_001257376.1:p.Gly276= | |
| NM_001270448.2:c.531G>A | NP_001257377.1:p.Gly177= |