Linked Data
ClinVar Variation Id:
92279
dbSNP Id:
rs398123085
ExAC:
17:7127993 G / A
gnomAD v2:
17-7127993-G-A
gnomAD v3:
17-7224674-G-A
gnomAD v4:
17-7224674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224674G>A , CM000679.2:g.7224674G>A | GRCh38 |
| NC_000017.10:g.7127993G>A , CM000679.1:g.7127993G>A | GRCh37 |
| NC_000017.9:g.7068717G>A | NCBI36 |
| NG_007975.1:g.9841G>A | |
| NG_008391.2:g.377C>T | |
| NG_033038.1:g.14871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1711G>A MANE Select | ENSP00000349297.5:p.Gly571Arg | |
| ENST00000322910.9:c.*1666G>A | ENSP00000325395.5:n.*1666G>A | |
| ENST00000350303.9:c.1645G>A | ENSP00000344152.5:p.Gly549Arg | |
| ENST00000356839.9:c.1711G>A | ENSP00000349297.5:p.Gly571Arg | |
| ENST00000542255.6:c.537-41G>A | ||
| ENST00000543245.6:c.1780G>A | ENSP00000438689.2:p.Gly594Arg | |
| ENST00000578033.1:n.42G>A | ||
| ENST00000578319.5:n.292G>A | ||
| ENST00000578711.1:n.1170G>A | ||
| ENST00000578809.5:n.283G>A | ||
| ENST00000579425.5:n.827G>A | ||
| ENST00000579546.1:c.446G>A | ||
| ENST00000583074.5:n.300-41G>A | ||
| ENST00000583848.5:c.77G>A | ENSP00000466487.1:p.Arg26Gln | |
| ENST00000583850.5:n.482G>A | ||
| ENST00000583858.5:c.642G>A | ||
| ENST00000585203.6:n.902G>A | ||
| NM_000018.3:c.1711G>A | NP_000009.1:p.Gly571Arg | |
| NM_001033859.2:c.1645G>A | NP_001029031.1:p.Gly549Arg | |
| NM_001270447.1:c.1780G>A | NP_001257376.1:p.Gly594Arg | |
| NM_001270448.1:c.1483G>A | NP_001257377.1:p.Gly495Arg | |
| XM_006721516.2:c.1679-41G>A | XP_006721579.2:n.1679-41G>A | |
| XM_011523829.1:c.1577-41G>A | XP_011522131.1:n.1577-41G>A | |
| XM_011523830.1:c.1609G>A | XP_011522132.1:p.Gly537Arg | |
| XR_934021.1:n.1814G>A | ||
| XR_934022.1:n.1720G>A | ||
| XR_934023.1:n.1688-41G>A | ||
| XM_006721516.3:c.1679-41G>A | XP_006721579.2:n.1679-41G>A | |
| XM_011523829.2:c.1577-41G>A | XP_011522131.1:n.1577-41G>A | |
| XM_011523830.2:c.1609G>A | XP_011522132.1:p.Gly537Arg | |
| XM_024450741.1:c.1699G>A | XP_024306509.1:p.Gly567Arg | |
| XR_934021.2:n.1766G>A | ||
| XR_934022.2:n.1672G>A | ||
| XR_934023.2:n.1640-41G>A | ||
| NM_000018.4:c.1711G>A MANE Select | NP_000009.1:p.Gly571Arg | |
| NM_001033859.3:c.1645G>A | NP_001029031.1:p.Gly549Arg | |
| NM_001270447.2:c.1780G>A | NP_001257376.1:p.Gly594Arg | |
| NM_001270448.2:c.1483G>A | NP_001257377.1:p.Gly495Arg |