Linked Data
ClinVar Variation Id:
306607
ClinVar RCV Id:
RCV000415759
RCV000548897
RCV000419409
RCV001094222
RCV001173805
RCV002392845
RCV003957588
dbSNP Id:
rs143773975
ExAC:
11:9989979 T / C
gnomAD v2:
11-9989979-T-C
gnomAD v3:
11-9968432-T-C
gnomAD v4:
11-9968432-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9968432T>C , CM000673.2:g.9968432T>C | GRCh38 |
| NC_000011.9:g.9989979T>C , CM000673.1:g.9989979T>C | GRCh37 |
| NC_000011.8:g.9946555T>C | NCBI36 |
| NG_008074.1:g.330776A>G , LRG_267:g.330776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420722.3:c.213A>G | ENSP00000410478.3:p.Glu71= | |
| ENST00000526353.2:n.1659A>G | ||
| ENST00000530741.2:c.213A>G | ENSP00000432643.2:p.Glu71= | |
| ENST00000533770.6:c.1509A>G | ENSP00000509247.1:p.Glu503= | |
| ENST00000675281.2:c.1509A>G | ENSP00000502491.1:p.Glu503= | |
| ENST00000676324.2:c.1509A>G | ENSP00000502578.1:p.Glu503= | |
| ENST00000676387.2:c.1395A>G | ENSP00000502779.1:p.Glu465= | |
| ENST00000687210.1:c.*131A>G | ENSP00000509480.1:n.*131A>G | |
| ENST00000688344.1:c.1116A>G | ENSP00000509987.1:p.Glu372= | |
| ENST00000688417.1:n.1659A>G | ||
| ENST00000689128.1:c.1509A>G | ENSP00000509587.1:p.Glu503= | |
| ENST00000689258.1:c.1371A>G | ENSP00000510475.1:p.Glu457= | |
| ENST00000689597.1:c.213A>G | ENSP00000510781.1:p.Glu71= | |
| ENST00000689674.1:c.213A>G | ENSP00000510723.1:p.Glu71= | |
| ENST00000689940.1:c.1509A>G | ENSP00000508452.1:p.Glu503= | |
| ENST00000690003.1:c.213A>G | ENSP00000508748.1:p.Glu71= | |
| ENST00000690234.1:c.217A>G | ENSP00000510288.1:n.217A>G | |
| ENST00000692716.1:c.1380A>G | ENSP00000509545.1:p.Glu460= | |
| ENST00000693181.1:c.213A>G | ENSP00000510179.1:p.Glu71= | |
| ENST00000256190.13:c.1509A>G MANE Select | ENSP00000256190.8:p.Glu503= | |
| ENST00000675281.1:c.1509A>G | ENSP00000502491.1:p.Glu503= | |
| ENST00000676324.1:c.1509A>G | ENSP00000502578.1:p.Glu503= | |
| ENST00000676387.1:c.1395A>G | ENSP00000502779.1:p.Glu465= | |
| ENST00000256190.12:c.1509A>G | ENSP00000256190.8:p.Glu503= | |
| ENST00000420722.2:c.328A>G | ||
| ENST00000533770.5:n.1424A>G | ||
| ENST00000617179.4:c.1368A>G | ENSP00000482806.1:p.Glu456= | |
| NM_030962.3:c.1509A>G , LRG_267t1:c.1509A>G | NP_112224.1:p.Glu503= | |
| XM_005253154.3:c.1509A>G | XP_005253211.1:p.Glu503= | |
| XM_005253155.3:c.1380A>G | XP_005253212.1:p.Glu460= | |
| XM_011520394.1:c.1395A>G | XP_011518696.1:p.Glu465= | |
| XM_011520395.1:c.1509A>G | XP_011518697.1:p.Glu503= | |
| XM_011520396.1:c.1509A>G | XP_011518698.1:p.Glu503= | |
| XM_005253154.5:c.1509A>G | XP_005253211.1:p.Glu503= | |
| XM_005253155.5:c.1380A>G | XP_005253212.1:p.Glu460= | |
| XM_011520394.3:c.1395A>G | XP_011518696.1:p.Glu465= | |
| XM_011520395.3:c.1509A>G | XP_011518697.1:p.Glu503= | |
| XM_011520396.3:c.1509A>G | XP_011518698.1:p.Glu503= | |
| XM_017018372.2:c.1371A>G | XP_016873861.1:p.Glu457= | |
| XM_017018373.2:c.1371A>G | XP_016873862.1:p.Glu457= | |
| XM_017018374.2:c.1380A>G | XP_016873863.1:p.Glu460= | |
| XM_017018375.2:c.1509A>G | XP_016873864.1:p.Glu503= | |
| XM_017018376.2:c.1509A>G | XP_016873865.1:p.Glu503= | |
| XM_017018377.2:c.1509A>G | XP_016873866.1:p.Glu503= | |
| XR_001747994.2:n.1647A>G | ||
| NM_001386339.1:c.1509A>G | NP_001373268.1:p.Glu503= | |
| NM_001386342.1:c.1380A>G | NP_001373271.1:p.Glu460= | |
| NM_030962.4:c.1509A>G MANE Select | NP_112224.1:p.Glu503= |