Linked Data
ClinVar Variation Id:
1366698
ClinVar RCV Id:
RCV001944804
dbSNP Id:
rs772763960
ExAC:
17:7127699 G / A
gnomAD v2:
17-7127699-G-A
gnomAD v3:
17-7224380-G-A
gnomAD v4:
17-7224380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224380G>A , CM000679.2:g.7224380G>A | GRCh38 |
| NC_000017.10:g.7127699G>A , CM000679.1:g.7127699G>A | GRCh37 |
| NC_000017.9:g.7068423G>A | NCBI36 |
| NG_007975.1:g.9547G>A | |
| NG_008391.2:g.671C>T | |
| NG_033038.1:g.15165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1592G>A MANE Select | ENSP00000349297.5:p.Arg531Gln | |
| ENST00000322910.9:c.*1547G>A | ENSP00000325395.5:n.*1547G>A | |
| ENST00000350303.9:c.1526G>A | ENSP00000344152.5:p.Arg509Gln | |
| ENST00000356839.9:c.1592G>A | ENSP00000349297.5:p.Arg531Gln | |
| ENST00000542255.6:c.450G>A | ||
| ENST00000543245.6:c.1661G>A | ENSP00000438689.2:p.Arg554Gln | |
| ENST00000578319.5:n.87G>A | ||
| ENST00000578711.1:n.876G>A | ||
| ENST00000578809.5:n.164G>A | ||
| ENST00000579391.1:n.200G>A | ||
| ENST00000579425.5:n.708G>A | ||
| ENST00000579546.1:c.331G>A | ||
| ENST00000579894.5:n.379G>A | ||
| ENST00000582450.1:n.100G>A | ||
| ENST00000583074.5:n.213G>A | ||
| ENST00000583850.5:n.367G>A | ||
| ENST00000583858.5:c.523G>A | ||
| ENST00000585203.6:n.783G>A | ||
| NM_000018.3:c.1592G>A | NP_000009.1:p.Arg531Gln | |
| NM_001033859.2:c.1526G>A | NP_001029031.1:p.Arg509Gln | |
| NM_001270447.1:c.1661G>A | NP_001257376.1:p.Arg554Gln | |
| NM_001270448.1:c.1364G>A | NP_001257377.1:p.Arg455Gln | |
| XM_006721516.2:c.1592G>A | XP_006721579.2:p.Arg531Gln | |
| XM_011523829.1:c.1494G>A | XP_011522131.1:p.Ser498= | |
| XM_011523830.1:c.1494G>A | XP_011522132.1:p.Ser498= | |
| XR_934021.1:n.1699G>A | ||
| XR_934022.1:n.1601G>A | ||
| XR_934023.1:n.1601G>A | ||
| XM_006721516.3:c.1592G>A | XP_006721579.2:p.Arg531Gln | |
| XM_011523829.2:c.1494G>A | XP_011522131.1:p.Ser498= | |
| XM_011523830.2:c.1494G>A | XP_011522132.1:p.Ser498= | |
| XM_024450741.1:c.1494G>A | XP_024306509.1:p.Ser498= | |
| XR_934021.2:n.1651G>A | ||
| XR_934022.2:n.1553G>A | ||
| XR_934023.2:n.1553G>A | ||
| NM_000018.4:c.1592G>A MANE Select | NP_000009.1:p.Arg531Gln | |
| NM_001033859.3:c.1526G>A | NP_001029031.1:p.Arg509Gln | |
| NM_001270447.2:c.1661G>A | NP_001257376.1:p.Arg554Gln | |
| NM_001270448.2:c.1364G>A | NP_001257377.1:p.Arg455Gln |