Linked Data
ClinVar Variation Id:
198980
dbSNP Id:
rs778514103
ExAC:
17:7125609 G / A
gnomAD v2:
17-7125609-G-A
gnomAD v3:
17-7222290-G-A
gnomAD v4:
17-7222290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222290G>A , CM000679.2:g.7222290G>A | GRCh38 |
| NC_000017.10:g.7125609G>A , CM000679.1:g.7125609G>A | GRCh37 |
| NC_000017.9:g.7066333G>A | NCBI36 |
| NG_007975.1:g.7457G>A | |
| NG_008391.2:g.2761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.866G>A MANE Select | ENSP00000349297.5:p.Gly289Glu | |
| ENST00000322910.9:c.*821G>A | ENSP00000325395.5:n.*821G>A | |
| ENST00000350303.9:c.800G>A | ENSP00000344152.5:p.Gly267Glu | |
| ENST00000356839.9:c.866G>A | ENSP00000349297.5:p.Gly289Glu | |
| ENST00000543245.6:c.935G>A | ENSP00000438689.2:p.Gly312Glu | |
| ENST00000577191.5:n.1038G>A | ||
| ENST00000581378.5:c.584G>A | ||
| ENST00000582379.1:n.250G>A | ||
| NM_000018.3:c.866G>A | NP_000009.1:p.Gly289Glu | |
| NM_001033859.2:c.800G>A | NP_001029031.1:p.Gly267Glu | |
| NM_001270447.1:c.935G>A | NP_001257376.1:p.Gly312Glu | |
| NM_001270448.1:c.638G>A | NP_001257377.1:p.Gly213Glu | |
| XM_006721516.2:c.866G>A | XP_006721579.2:p.Gly289Glu | |
| XM_011523829.1:c.866G>A | XP_011522131.1:p.Gly289Glu | |
| XM_011523830.1:c.866G>A | XP_011522132.1:p.Gly289Glu | |
| XR_934021.1:n.973G>A | ||
| XR_934022.1:n.973G>A | ||
| XR_934023.1:n.973G>A | ||
| XM_006721516.3:c.866G>A | XP_006721579.2:p.Gly289Glu | |
| XM_011523829.2:c.866G>A | XP_011522131.1:p.Gly289Glu | |
| XM_011523830.2:c.866G>A | XP_011522132.1:p.Gly289Glu | |
| XM_024450741.1:c.866G>A | XP_024306509.1:p.Gly289Glu | |
| XR_934021.2:n.925G>A | ||
| XR_934022.2:n.925G>A | ||
| XR_934023.2:n.925G>A | ||
| NM_000018.4:c.866G>A MANE Select | NP_000009.1:p.Gly289Glu | |
| NM_001033859.3:c.800G>A | NP_001029031.1:p.Gly267Glu | |
| NM_001270447.2:c.935G>A | NP_001257376.1:p.Gly312Glu | |
| NM_001270448.2:c.638G>A | NP_001257377.1:p.Gly213Glu |