Linked Data
ClinVar Variation Id:
1217459
dbSNP Id:
rs200117092
ExAC:
22:38512126 C / A
gnomAD v2:
22-38512126-C-A
gnomAD v3:
22-38116119-C-A
gnomAD v4:
22-38116119-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38116119C>A , CM000684.2:g.38116119C>A | GRCh38 |
| NC_000022.10:g.38512126C>A , CM000684.1:g.38512126C>A | GRCh37 |
| NC_000022.9:g.36842072C>A | NCBI36 |
| NG_007094.2:g.94572G>T | |
| NG_007094.3:g.103660G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1835G>T MANE Select | ENSP00000333142.3:p.Arg612Leu | |
| ENST00000427114.6:c.1139G>T | ENSP00000407743.2:p.Arg380Leu | |
| ENST00000436218.6:c.*1033G>T | ENSP00000401242.1:n.*1033G>T | |
| ENST00000655142.1:c.*693G>T | ENSP00000499715.1:n.*693G>T | |
| ENST00000660610.1:c.1835G>T | ENSP00000499555.1:p.Arg612Leu | |
| ENST00000663895.1:c.1835G>T | ENSP00000499712.1:p.Arg612Leu | |
| ENST00000664587.1:c.1697G>T | ENSP00000499394.1:p.Arg566Leu | |
| ENST00000665987.1:c.*1574G>T | ENSP00000499423.1:n.*1574G>T | |
| ENST00000667521.1:c.1835G>T | ENSP00000499665.1:p.Arg612Leu | |
| ENST00000668499.1:c.*1557G>T | ENSP00000499626.1:n.*1557G>T | |
| ENST00000668949.1:c.1673G>T | ENSP00000499711.1:p.Arg558Leu | |
| ENST00000671093.1:n.1767G>T | ||
| ENST00000673413.1:c.*1504G>T | ENSP00000500600.1:n.*1504G>T | |
| ENST00000332509.7:c.1835G>T | ENSP00000333142.3:p.Arg612Leu | |
| ENST00000335539.7:c.1673G>T | ENSP00000335149.3:p.Arg558Leu | |
| ENST00000402064.5:c.1673G>T | ENSP00000386100.1:p.Arg558Leu | |
| ENST00000448094.5:c.*440G>T | ENSP00000407106.1:n.*440G>T | |
| ENST00000454670.1:c.571G>T | ||
| ENST00000496409.1:n.375G>T | ||
| NM_001004426.1:c.1673G>T | NP_001004426.1:p.Arg558Leu | |
| NM_001199562.1:c.1673G>T | NP_001186491.1:p.Arg558Leu | |
| NM_003560.2:c.1835G>T | NP_003551.2:p.Arg612Leu | |
| XM_005261764.1:c.1835G>T | XP_005261821.1:p.Arg612Leu | |
| XM_005261765.1:c.1835G>T | XP_005261822.1:p.Arg612Leu | |
| XM_005261766.1:c.1835G>T | XP_005261823.1:p.Arg612Leu | |
| XM_006724332.2:c.1835G>T | XP_006724395.1:p.Arg612Leu | |
| XM_011530422.1:c.1730G>T | XP_011528724.1:p.Arg577Leu | |
| XM_011530423.1:c.1301G>T | XP_011528725.1:p.Arg434Leu | |
| XM_011530424.1:c.1301G>T | XP_011528726.1:p.Arg434Leu | |
| XM_011530425.1:c.1301G>T | XP_011528727.1:p.Arg434Leu | |
| XR_244390.1:n.1943G>T | ||
| XR_430411.1:n.1995G>T | ||
| XR_937937.1:n.2034G>T | ||
| XR_937938.1:n.2029G>T | ||
| XR_937939.1:n.2086G>T | ||
| NM_001004426.2:c.1673G>T | NP_001004426.1:p.Arg558Leu | |
| NM_001199562.2:c.1673G>T | NP_001186491.1:p.Arg558Leu | |
| NM_001349864.1:c.1835G>T | NP_001336793.1:p.Arg612Leu | |
| NM_001349865.1:c.1673G>T | NP_001336794.1:p.Arg558Leu | |
| NM_001349866.1:c.1673G>T | NP_001336795.1:p.Arg558Leu | |
| NM_001349867.1:c.1301G>T | NP_001336796.1:p.Arg434Leu | |
| NM_001349868.1:c.1157G>T | NP_001336797.1:p.Arg386Leu | |
| NM_001349869.1:c.1139G>T | NP_001336798.1:p.Arg380Leu | |
| NM_003560.3:c.1835G>T | NP_003551.2:p.Arg612Leu | |
| XM_005261764.3:c.1835G>T | XP_005261821.1:p.Arg612Leu | |
| XM_005261765.2:c.1835G>T | XP_005261822.1:p.Arg612Leu | |
| XM_006724332.4:c.1835G>T | XP_006724395.1:p.Arg612Leu | |
| XM_017028983.1:c.1139G>T | XP_016884472.1:p.Arg380Leu | |
| XM_024452280.1:c.1301G>T | XP_024308048.1:p.Arg434Leu | |
| XM_024452281.1:c.1301G>T | XP_024308049.1:p.Arg434Leu | |
| XM_024452282.1:c.1301G>T | XP_024308050.1:p.Arg434Leu | |
| XM_024452283.1:c.1157G>T | XP_024308051.1:p.Arg386Leu | |
| XM_024452284.1:c.1139G>T | XP_024308052.1:p.Arg380Leu | |
| XM_024452285.1:c.1139G>T | XP_024308053.1:p.Arg380Leu | |
| XR_001755325.2:n.2018G>T | ||
| XR_001755327.2:n.2013G>T | ||
| XR_001755328.2:n.1979G>T | ||
| XR_244390.3:n.1927G>T | ||
| XR_937938.3:n.2013G>T | ||
| XR_937939.3:n.2070G>T | ||
| NM_001199562.3:c.1673G>T | NP_001186491.1:p.Arg558Leu | |
| NM_001349864.2:c.1835G>T | NP_001336793.1:p.Arg612Leu | |
| NM_001349865.2:c.1673G>T | NP_001336794.1:p.Arg558Leu | |
| NM_001349866.2:c.1673G>T | NP_001336795.1:p.Arg558Leu | |
| NM_001349867.2:c.1301G>T | NP_001336796.1:p.Arg434Leu | |
| NM_001349868.2:c.1157G>T | NP_001336797.1:p.Arg386Leu | |
| NM_001349869.2:c.1139G>T | NP_001336798.1:p.Arg380Leu | |
| NM_003560.4:c.1835G>T MANE Select | NP_003551.2:p.Arg612Leu | |
| NM_001004426.3:c.1673G>T | NP_001004426.1:p.Arg558Leu |