Linked Data
ClinVar Variation Id:
43314
ClinVar RCV Id:
RCV000036219
dbSNP Id:
rs111033175
gnomAD v3:
11-77208781-A-G
gnomAD v4:
11-77208781-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77208781A>G , CM000673.2:g.77208781A>G | GRCh38 |
| NC_000011.9:g.76919826A>G , CM000673.1:g.76919826A>G | GRCh37 |
| NC_000011.8:g.76597474A>G | NCBI36 |
| NG_009086.1:g.85517A>G | |
| NG_009086.2:g.85536A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6029A>G MANE Select | ENSP00000386331.3:p.Asp2010Gly | |
| ENST00000670577.1:c.3830A>G | ||
| ENST00000409619.6:c.5882A>G | ENSP00000386635.2:p.Asp1961Gly | |
| ENST00000409709.7:c.6029A>G | ENSP00000386331.3:p.Asp2010Gly | |
| ENST00000458169.2:c.3455A>G | ENSP00000417017.2:p.Asp1152Gly | |
| ENST00000458637.6:c.5915A>G | ENSP00000392185.2:p.Asp1972Gly | |
| ENST00000481328.7:n.3565A>G | ||
| ENST00000605744.1:n.943A>G | ||
| NM_000260.3:c.6029A>G | NP_000251.3:p.Asp2010Gly | |
| NM_001127180.1:c.5915A>G | NP_001120652.1:p.Asp1972Gly | |
| XM_005274012.2:c.5912A>G | XP_005274069.1:p.Asp1971Gly | |
| XM_006718558.2:c.6020A>G | XP_006718621.1:p.Asp2007Gly | |
| XM_006718559.2:c.5915A>G | XP_006718622.1:p.Asp1972Gly | |
| XM_006718560.2:c.5912A>G | XP_006718623.1:p.Asp1971Gly | |
| XM_006718561.2:c.5915A>G | XP_006718624.1:p.Asp1972Gly | |
| XM_011545044.1:c.6029A>G | XP_011543346.1:p.Asp2010Gly | |
| XM_011545045.1:c.6023A>G | XP_011543347.1:p.Asp2008Gly | |
| XM_011545046.1:c.5996A>G | XP_011543348.1:p.Asp1999Gly | |
| XM_011545047.1:c.5933A>G | XP_011543349.1:p.Asp1978Gly | |
| XM_011545048.1:c.5804A>G | XP_011543350.1:p.Asp1935Gly | |
| XM_011545049.1:c.5792A>G | XP_011543351.1:p.Asp1931Gly | |
| XM_011545050.1:c.5765A>G | XP_011543352.1:p.Asp1922Gly | |
| XM_011545051.1:c.6029A>G | XP_011543353.1:p.Asp2010Gly | |
| XR_949938.1:n.6349A>G | ||
| XR_949941.1:n.6323A>G | ||
| XM_011545044.2:c.6029A>G | XP_011543346.1:p.Asp2010Gly | |
| XM_011545046.2:c.6119A>G | XP_011543348.2:p.Asp2040Gly | |
| XM_011545050.2:c.5765A>G | XP_011543352.1:p.Asp1922Gly | |
| XM_017017778.1:c.6113A>G | XP_016873267.1:p.Asp2038Gly | |
| XM_017017779.1:c.6110A>G | XP_016873268.1:p.Asp2037Gly | |
| XM_017017780.1:c.6119A>G | XP_016873269.1:p.Asp2040Gly | |
| XM_017017781.1:c.6023A>G | XP_016873270.1:p.Asp2008Gly | |
| XM_017017782.1:c.6005A>G | XP_016873271.1:p.Asp2002Gly | |
| XM_017017783.1:c.6002A>G | XP_016873272.1:p.Asp2001Gly | |
| XM_017017784.1:c.6002A>G | XP_016873273.1:p.Asp2001Gly | |
| XM_017017785.1:c.5882A>G | XP_016873274.1:p.Asp1961Gly | |
| XM_017017786.1:c.6119A>G | XP_016873275.1:p.Asp2040Gly | |
| XM_017017788.1:c.6005A>G | XP_016873277.1:p.Asp2002Gly | |
| XR_001747885.1:n.6108A>G | ||
| XR_001747886.1:n.6049A>G | ||
| XR_001747887.1:n.6094A>G | ||
| NM_000260.4:c.6029A>G MANE Select | NP_000251.3:p.Asp2010Gly | |
| NM_001127180.2:c.5915A>G | NP_001120652.1:p.Asp1972Gly | |
| NM_001369365.1:c.5882A>G | NP_001356294.1:p.Asp1961Gly |