Linked Data
ClinVar Variation Id:
2140394
ClinVar RCV Id:
RCV003066839
dbSNP Id:
rs757214570
ExAC:
8:100880521 A / G
gnomAD v2:
8-100880521-A-G
gnomAD v4:
8-99868293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868293A>G , CM000670.2:g.99868293A>G | GRCh38 |
| NC_000008.10:g.100880521A>G , CM000670.1:g.100880521A>G | GRCh37 |
| NC_000008.9:g.100949697A>G | NCBI36 |
| NG_007098.2:g.860028A>G , LRG_351:g.860028A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*389A>G | ENSP00000507923.1:n.*389A>G | |
| ENST00000682358.1:n.11365A>G | ||
| ENST00000683334.1:c.*6977A>G | ENSP00000507369.1:n.*6977A>G | |
| ENST00000357162.7:c.11220A>G MANE Select | ENSP00000349685.2:p.Ala3740= | |
| ENST00000358544.7:c.11295A>G MANE Plus Clinical | ENSP00000351346.2:p.Ala3765= | |
| ENST00000357162.6:c.11220A>G | ENSP00000349685.2:p.Ala3740= | |
| ENST00000358544.6:c.11295A>G | ENSP00000351346.2:p.Ala3765= | |
| ENST00000493587.1:n.237A>G | ||
| NM_017890.4:c.11295A>G , LRG_351t1:c.11295A>G | NP_060360.3:p.Ala3765= | |
| NM_152564.4:c.11220A>G , LRG_351t2:c.11220A>G | NP_689777.3:p.Ala3740= | |
| XM_005250800.2:c.11295A>G | XP_005250857.1:p.Ala3765= | |
| XM_005250801.3:c.11295A>G | XP_005250858.1:p.Ala3765= | |
| XM_011516848.1:c.11292A>G | XP_011515150.1:p.Ala3764= | |
| XM_011516849.1:c.11217A>G | XP_011515151.1:p.Ala3739= | |
| XM_011516850.1:c.10917A>G | XP_011515152.1:p.Ala3639= | |
| XM_011516851.1:c.8181A>G | XP_011515153.1:p.Ala2727= | |
| XM_011516852.1:c.8181A>G | XP_011515154.1:p.Ala2727= | |
| XM_011516854.1:c.7074A>G | XP_011515156.1:p.Ala2358= | |
| XM_005250800.3:c.11295A>G | XP_005250857.1:p.Ala3765= | |
| XM_005250801.5:c.11295A>G | XP_005250858.1:p.Ala3765= | |
| XM_011516848.2:c.11292A>G | XP_011515150.1:p.Ala3764= | |
| XM_011516849.2:c.11217A>G | XP_011515151.1:p.Ala3739= | |
| XM_011516850.2:c.10917A>G | XP_011515152.1:p.Ala3639= | |
| XM_011516851.2:c.8181A>G | XP_011515153.1:p.Ala2727= | |
| XM_011516852.2:c.8181A>G | XP_011515154.1:p.Ala2727= | |
| XM_011516854.2:c.7074A>G | XP_011515156.1:p.Ala2358= | |
| XM_017013109.1:c.11100A>G | XP_016868598.1:p.Ala3700= | |
| XM_017013111.1:c.8181A>G | XP_016868600.1:p.Ala2727= | |
| XM_017013112.1:c.6852A>G | XP_016868601.1:p.Ala2284= | |
| XM_024447074.1:c.10080A>G | XP_024302842.1:p.Ala3360= | |
| NM_017890.5:c.11295A>G MANE Plus Clinical | NP_060360.3:p.Ala3765= | |
| NM_152564.5:c.11220A>G MANE Select | NP_689777.3:p.Ala3740= |