Linked Data
ClinVar Variation Id:
1368645
ClinVar RCV Id:
RCV001874461
dbSNP Id:
rs1839535083
gnomAD v4:
10-69384467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69384467G>A , CM000672.2:g.69384467G>A | GRCh38 |
| NC_000010.10:g.71144223G>A , CM000672.1:g.71144223G>A | GRCh37 |
| NC_000010.9:g.70814229G>A | NCBI36 |
| NG_012077.1:g.119468G>A , LRG_365:g.119468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1705G>A | ENSP00000515580.1:p.Gly569Ser | |
| ENST00000703945.1:c.1621G>A | ENSP00000515578.1:p.Gly541Ser | |
| ENST00000703946.1:c.1265+4372G>A | ENSP00000515579.1:n.1265+4372G>A | |
| ENST00000703947.1:c.1315G>A | ENSP00000515581.1:p.Gly439Ser | |
| ENST00000703948.1:c.*1322G>A | ENSP00000515582.1:n.*1322G>A | |
| ENST00000703949.1:c.1705G>A | ENSP00000515583.1:p.Gly569Ser | |
| ENST00000703950.1:c.1705G>A | ENSP00000515584.1:p.Gly569Ser | |
| ENST00000703951.1:c.1265+4372G>A | ENSP00000515585.1:n.1265+4372G>A | |
| ENST00000703952.1:c.1265+4372G>A | ENSP00000515586.1:n.1265+4372G>A | |
| ENST00000703953.1:c.*968G>A | ENSP00000515587.1:n.*968G>A | |
| ENST00000703954.1:c.1585G>A | ENSP00000515588.1:p.Gly529Ser | |
| ENST00000703955.1:n.2255G>A | ||
| ENST00000703957.1:n.210G>A | ||
| ENST00000298649.8:c.1702G>A | ENSP00000298649.3:p.Gly568Ser | |
| ENST00000359426.7:c.1705G>A MANE Select | ENSP00000352398.6:p.Gly569Ser | |
| ENST00000436817.6:c.1717G>A | ENSP00000415949.2:p.Gly573Ser | |
| ENST00000493591.6:c.*1593G>A | ENSP00000494917.1:n.*1593G>A | |
| ENST00000643399.2:c.1717G>A MANE Plus Clinical | ENSP00000494664.1:p.Gly573Ser | |
| ENST00000298649.7:c.1702G>A | ENSP00000298649.3:p.Gly568Ser | |
| ENST00000359426.6:c.1705G>A | ENSP00000352398.6:p.Gly569Ser | |
| ENST00000360289.6:c.1669G>A | ENSP00000353433.2:p.Gly557Ser | |
| ENST00000448642.6:c.1717G>A | ENSP00000402103.3:p.Gly573Ser | |
| ENST00000494253.1:n.1931G>A | ||
| NM_000188.2:c.1705G>A | NP_000179.2:p.Gly569Ser | |
| NM_033496.2:c.1702G>A | NP_277031.1:p.Gly568Ser | |
| NM_033497.2:c.1717G>A | NP_277032.1:p.Gly573Ser | |
| NM_033498.2:c.1717G>A | NP_277033.1:p.Gly573Ser | |
| NM_033500.2:c.1669G>A , LRG_365t1:c.1669G>A | NP_277035.2:p.Gly557Ser | |
| XM_005269735.2:c.1834G>A | XP_005269792.1:p.Gly612Ser | |
| XM_005269736.1:c.1717G>A | XP_005269793.1:p.Gly573Ser | |
| XM_005269737.1:c.1621G>A | XP_005269794.1:p.Gly541Ser | |
| XM_011539732.1:c.1669G>A | XP_011538034.1:p.Gly557Ser | |
| XM_011539733.1:c.1663G>A | XP_011538035.1:p.Gly555Ser | |
| XM_011539734.1:c.1660G>A | XP_011538036.1:p.Gly554Ser | |
| NM_001322364.1:c.1717G>A | NP_001309293.1:p.Gly573Ser | |
| NM_001322365.1:c.1810G>A | NP_001309294.1:p.Gly604Ser | |
| NM_001322366.1:c.1621G>A | NP_001309295.1:p.Gly541Ser | |
| NM_001322367.1:c.1609G>A | NP_001309296.1:p.Gly537Ser | |
| NM_001358263.1:c.1717G>A MANE Plus Clinical | NP_001345192.1:p.Gly573Ser | |
| XM_024447969.1:c.1717G>A | XP_024303737.1:p.Gly573Ser | |
| NM_000188.3:c.1705G>A MANE Select | NP_000179.2:p.Gly569Ser | |
| NM_001322364.2:c.1717G>A | NP_001309293.1:p.Gly573Ser | |
| NM_001322365.2:c.1810G>A | NP_001309294.1:p.Gly604Ser | |
| NM_033496.3:c.1702G>A | NP_277031.1:p.Gly568Ser | |
| NM_033497.3:c.1717G>A | NP_277032.1:p.Gly573Ser | |
| NM_033498.3:c.1717G>A | NP_277033.1:p.Gly573Ser |