Linked Data
ClinVar Variation Id:
589611
dbSNP Id:
rs143115716
ExAC:
8:100654320 G / A
gnomAD v2:
8-100654320-G-A
gnomAD v3:
8-99642092-G-A
gnomAD v4:
8-99642092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642092G>A , CM000670.2:g.99642092G>A | GRCh38 |
| NC_000008.10:g.100654320G>A , CM000670.1:g.100654320G>A | GRCh37 |
| NC_000008.9:g.100723496G>A | NCBI36 |
| NG_007098.2:g.633827G>A , LRG_351:g.633827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.5577G>A | ENSP00000507923.1:p.Ser1859= | |
| ENST00000682358.1:n.5647G>A | ||
| ENST00000683334.1:c.*1259G>A | ENSP00000507369.1:n.*1259G>A | |
| ENST00000357162.7:c.5502G>A MANE Select | ENSP00000349685.2:p.Ser1834= | |
| ENST00000358544.7:c.5577G>A MANE Plus Clinical | ENSP00000351346.2:p.Ser1859= | |
| ENST00000357162.6:c.5502G>A | ENSP00000349685.2:p.Ser1834= | |
| ENST00000358544.6:c.5577G>A | ENSP00000351346.2:p.Ser1859= | |
| NM_017890.4:c.5577G>A , LRG_351t1:c.5577G>A | NP_060360.3:p.Ser1859= | |
| NM_152564.4:c.5502G>A , LRG_351t2:c.5502G>A | NP_689777.3:p.Ser1834= | |
| XM_005250800.2:c.5577G>A | XP_005250857.1:p.Ser1859= | |
| XM_005250801.3:c.5577G>A | XP_005250858.1:p.Ser1859= | |
| XM_011516848.1:c.5574G>A | XP_011515150.1:p.Ser1858= | |
| XM_011516849.1:c.5499G>A | XP_011515151.1:p.Ser1833= | |
| XM_011516850.1:c.5199G>A | XP_011515152.1:p.Ser1733= | |
| XM_011516851.1:c.2463G>A | XP_011515153.1:p.Ser821= | |
| XM_011516852.1:c.2463G>A | XP_011515154.1:p.Ser821= | |
| XM_011516853.1:c.5577G>A | XP_011515155.1:p.Ser1859= | |
| XM_011516854.1:c.1356G>A | XP_011515156.1:p.Ser452= | |
| XM_005250800.3:c.5577G>A | XP_005250857.1:p.Ser1859= | |
| XM_005250801.5:c.5577G>A | XP_005250858.1:p.Ser1859= | |
| XM_011516848.2:c.5574G>A | XP_011515150.1:p.Ser1858= | |
| XM_011516849.2:c.5499G>A | XP_011515151.1:p.Ser1833= | |
| XM_011516850.2:c.5199G>A | XP_011515152.1:p.Ser1733= | |
| XM_011516851.2:c.2463G>A | XP_011515153.1:p.Ser821= | |
| XM_011516852.2:c.2463G>A | XP_011515154.1:p.Ser821= | |
| XM_011516853.2:c.5577G>A | XP_011515155.1:p.Ser1859= | |
| XM_011516854.2:c.1356G>A | XP_011515156.1:p.Ser452= | |
| XM_017013109.1:c.5382G>A | XP_016868598.1:p.Ser1794= | |
| XM_017013111.1:c.2463G>A | XP_016868600.1:p.Ser821= | |
| XM_017013112.1:c.1134G>A | XP_016868601.1:p.Ser378= | |
| XM_024447074.1:c.4362G>A | XP_024302842.1:p.Ser1454= | |
| XR_001745482.2:n.5538G>A | ||
| NM_017890.5:c.5577G>A MANE Plus Clinical | NP_060360.3:p.Ser1859= | |
| NM_152564.5:c.5502G>A MANE Select | NP_689777.3:p.Ser1834= |