Linked Data
ClinVar Variation Id:
360836
dbSNP Id:
rs147841245
ExAC:
7:91707140 A / G
gnomAD v2:
7-91707140-A-G
gnomAD v3:
7-92077826-A-G
gnomAD v4:
7-92077826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92077826A>G , CM000669.2:g.92077826A>G | GRCh38 |
| NC_000007.13:g.91707140A>G , CM000669.1:g.91707140A>G | GRCh37 |
| NC_000007.12:g.91545076A>G | NCBI36 |
| NG_011623.1:g.141952A>G , LRG_331:g.141952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6896A>G MANE Select | ENSP00000348573.3:p.Glu2299Gly | |
| ENST00000359028.7:c.6968A>G | ENSP00000351922.4:p.Glu2323Gly | |
| ENST00000394534.7:c.389A>G | ENSP00000378042.3:p.Glu130Gly | |
| ENST00000491695.2:c.1541A>G | ENSP00000494626.2:p.Glu514Gly | |
| ENST00000674381.2:c.*6625A>G | ENSP00000501536.2:n.*6625A>G | |
| ENST00000679448.1:c.6872A>G | ENSP00000505889.1:p.Glu2291Gly | |
| ENST00000679457.1:c.6872A>G | ENSP00000505450.1:p.Glu2291Gly | |
| ENST00000679474.1:n.7094A>G | ||
| ENST00000679521.1:c.6842A>G | ENSP00000505456.1:p.Glu2281Gly | |
| ENST00000679554.1:c.*6681A>G | ENSP00000506415.1:n.*6681A>G | |
| ENST00000679722.1:n.7118A>G | ||
| ENST00000679821.1:c.6638A>G | ENSP00000506040.1:p.Glu2213Gly | |
| ENST00000680047.1:n.7094A>G | ||
| ENST00000680072.1:c.6719A>G | ENSP00000506581.1:p.Glu2240Gly | |
| ENST00000680181.1:c.6803A>G | ENSP00000505548.1:p.Glu2268Gly | |
| ENST00000680365.1:c.389A>G | ENSP00000506019.1:p.Glu130Gly | |
| ENST00000680513.1:c.6755A>G | ENSP00000505284.1:p.Glu2252Gly | |
| ENST00000680534.1:c.6935A>G | ENSP00000506674.1:p.Glu2312Gly | |
| ENST00000680766.1:c.6872A>G | ENSP00000505204.1:p.Glu2291Gly | |
| ENST00000680952.1:c.6872A>G | ENSP00000506407.1:p.Glu2291Gly | |
| ENST00000681216.1:c.389A>G | ENSP00000505551.1:p.Glu130Gly | |
| ENST00000681412.1:c.6896A>G | ENSP00000506486.1:p.Glu2299Gly | |
| ENST00000681722.1:c.6872A>G | ENSP00000506566.1:p.Glu2291Gly | |
| ENST00000356239.7:c.6896A>G | ENSP00000348573.3:p.Glu2299Gly | |
| ENST00000358100.6:c.6755A>G | ENSP00000350813.3:p.Glu2252Gly | |
| ENST00000359028.6:c.6929A>G | ENSP00000351922.3:p.Glu2310Gly | |
| ENST00000394534.6:c.434A>G | ENSP00000378042.2:p.Glu145Gly | |
| NM_005751.4:c.6896A>G , LRG_331t1:c.6896A>G | NP_005742.4:p.Glu2299Gly | |
| NM_147185.2:c.6872A>G | NP_671714.1:p.Glu2291Gly | |
| XM_006715827.1:c.6755A>G | XP_006715890.1:p.Glu2252Gly | |
| XM_011515709.1:c.7043A>G | XP_011514011.1:p.Glu2348Gly | |
| XM_011515710.1:c.7067A>G | XP_011514012.1:p.Glu2356Gly | |
| XM_011515711.1:c.7007A>G | XP_011514013.1:p.Glu2336Gly | |
| XM_011515712.1:c.7004A>G | XP_011514014.1:p.Glu2335Gly | |
| XM_011515713.1:c.6989A>G | XP_011514015.1:p.Glu2330Gly | |
| XM_011515714.1:c.7028A>G | XP_011514016.1:p.Glu2343Gly | |
| XM_011515716.1:c.6947A>G | XP_011514018.1:p.Glu2316Gly | |
| XM_011515717.1:c.6902A>G | XP_011514019.1:p.Glu2301Gly | |
| XM_011515718.1:c.6932A>G | XP_011514020.1:p.Glu2311Gly | |
| XM_011515719.1:c.6908A>G | XP_011514021.1:p.Glu2303Gly | |
| XM_011515720.1:c.6791A>G | XP_011514022.1:p.Glu2264Gly | |
| XM_011515721.1:c.1556A>G | XP_011514023.1:p.Glu519Gly | |
| XM_011515722.1:c.1517A>G | XP_011514024.1:p.Glu506Gly | |
| XM_017011642.2:c.7031A>G | XP_016867131.1:p.Glu2344Gly | |
| XM_017011643.2:c.6992A>G | XP_016867132.1:p.Glu2331Gly | |
| XM_017011644.2:c.7031A>G | XP_016867133.1:p.Glu2344Gly | |
| XM_017011645.2:c.6977A>G | XP_016867134.1:p.Glu2326Gly | |
| XM_017011646.2:c.6992A>G | XP_016867135.1:p.Glu2331Gly | |
| XM_017011647.2:c.6938A>G | XP_016867136.1:p.Glu2313Gly | |
| XM_017011648.2:c.6935A>G | XP_016867137.1:p.Glu2312Gly | |
| XM_017011649.2:c.6968A>G | XP_016867138.1:p.Glu2323Gly | |
| XM_017011650.2:c.6896A>G | XP_016867139.1:p.Glu2299Gly | |
| XM_017011651.2:c.6890A>G | XP_016867140.1:p.Glu2297Gly | |
| XM_017011652.2:c.7031A>G | XP_016867141.1:p.Glu2344Gly | |
| XM_017011653.2:c.6803A>G | XP_016867142.1:p.Glu2268Gly | |
| XM_017011654.2:c.6755A>G | XP_016867143.1:p.Glu2252Gly | |
| XM_017011655.2:c.6659A>G | XP_016867144.1:p.Glu2220Gly | |
| XM_017011656.2:c.6659A>G | XP_016867145.1:p.Glu2220Gly | |
| XM_017011657.2:c.2696A>G | XP_016867146.1:p.Glu899Gly | |
| XM_017011658.2:c.1580A>G | XP_016867147.1:p.Glu527Gly | |
| XM_017011659.2:c.1541A>G | XP_016867148.1:p.Glu514Gly | |
| XM_017011660.2:c.1541A>G | XP_016867149.1:p.Glu514Gly | |
| XM_024446631.1:c.6794A>G | XP_024302399.1:p.Glu2265Gly | |
| NM_147185.3:c.6872A>G | NP_671714.1:p.Glu2291Gly | |
| NM_001379277.1:c.1541A>G | NP_001366206.1:p.Glu514Gly | |
| NM_005751.5:c.6896A>G MANE Select | NP_005742.4:p.Glu2299Gly |