Linked Data
ClinVar Variation Id:
2702559
ClinVar RCV Id:
RCV003498288
gnomAD v4:
8-99642086-C-A
MyVariant Identifiers:
chr8:g.100654314C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642086C>A , CM000670.2:g.99642086C>A | GRCh38 |
| NC_000008.10:g.100654314C>A , CM000670.1:g.100654314C>A | GRCh37 |
| NC_000008.9:g.100723490C>A | NCBI36 |
| NG_007098.2:g.633821C>A , LRG_351:g.633821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.5571C>A | ENSP00000507923.1:p.Ser1857= | |
| ENST00000682358.1:n.5641C>A | ||
| ENST00000683334.1:c.*1253C>A | ENSP00000507369.1:n.*1253C>A | |
| ENST00000357162.7:c.5496C>A MANE Select | ENSP00000349685.2:p.Ser1832= | |
| ENST00000358544.7:c.5571C>A MANE Plus Clinical | ENSP00000351346.2:p.Ser1857= | |
| ENST00000357162.6:c.5496C>A | ENSP00000349685.2:p.Ser1832= | |
| ENST00000358544.6:c.5571C>A | ENSP00000351346.2:p.Ser1857= | |
| NM_017890.4:c.5571C>A , LRG_351t1:c.5571C>A | NP_060360.3:p.Ser1857= | |
| NM_152564.4:c.5496C>A , LRG_351t2:c.5496C>A | NP_689777.3:p.Ser1832= | |
| XM_005250800.2:c.5571C>A | XP_005250857.1:p.Ser1857= | |
| XM_005250801.3:c.5571C>A | XP_005250858.1:p.Ser1857= | |
| XM_011516848.1:c.5568C>A | XP_011515150.1:p.Ser1856= | |
| XM_011516849.1:c.5493C>A | XP_011515151.1:p.Ser1831= | |
| XM_011516850.1:c.5193C>A | XP_011515152.1:p.Ser1731= | |
| XM_011516851.1:c.2457C>A | XP_011515153.1:p.Ser819= | |
| XM_011516852.1:c.2457C>A | XP_011515154.1:p.Ser819= | |
| XM_011516853.1:c.5571C>A | XP_011515155.1:p.Ser1857= | |
| XM_011516854.1:c.1350C>A | XP_011515156.1:p.Ser450= | |
| XM_005250800.3:c.5571C>A | XP_005250857.1:p.Ser1857= | |
| XM_005250801.5:c.5571C>A | XP_005250858.1:p.Ser1857= | |
| XM_011516848.2:c.5568C>A | XP_011515150.1:p.Ser1856= | |
| XM_011516849.2:c.5493C>A | XP_011515151.1:p.Ser1831= | |
| XM_011516850.2:c.5193C>A | XP_011515152.1:p.Ser1731= | |
| XM_011516851.2:c.2457C>A | XP_011515153.1:p.Ser819= | |
| XM_011516852.2:c.2457C>A | XP_011515154.1:p.Ser819= | |
| XM_011516853.2:c.5571C>A | XP_011515155.1:p.Ser1857= | |
| XM_011516854.2:c.1350C>A | XP_011515156.1:p.Ser450= | |
| XM_017013109.1:c.5376C>A | XP_016868598.1:p.Ser1792= | |
| XM_017013111.1:c.2457C>A | XP_016868600.1:p.Ser819= | |
| XM_017013112.1:c.1128C>A | XP_016868601.1:p.Ser376= | |
| XM_024447074.1:c.4356C>A | XP_024302842.1:p.Ser1452= | |
| XR_001745482.2:n.5532C>A | ||
| NM_017890.5:c.5571C>A MANE Plus Clinical | NP_060360.3:p.Ser1857= | |
| NM_152564.5:c.5496C>A MANE Select | NP_689777.3:p.Ser1832= |