Linked Data
ClinVar Variation Id:
588073
dbSNP Id:
rs1016168403
gnomAD v2:
8-100789017-C-G
gnomAD v4:
8-99776789-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776789C>G , CM000670.2:g.99776789C>G | GRCh38 |
| NC_000008.10:g.100789017C>G , CM000670.1:g.100789017C>G | GRCh37 |
| NC_000008.9:g.100858193C>G | NCBI36 |
| NG_007098.2:g.768524C>G , LRG_351:g.768524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7337C>G | ENSP00000507923.1:p.Ser2446Cys | |
| ENST00000682358.1:n.7407C>G | ||
| ENST00000683334.1:c.*3019C>G | ENSP00000507369.1:n.*3019C>G | |
| ENST00000357162.7:c.7262C>G MANE Select | ENSP00000349685.2:p.Ser2421Cys | |
| ENST00000358544.7:c.7337C>G MANE Plus Clinical | ENSP00000351346.2:p.Ser2446Cys | |
| ENST00000357162.6:c.7262C>G | ENSP00000349685.2:p.Ser2421Cys | |
| ENST00000358544.6:c.7337C>G | ENSP00000351346.2:p.Ser2446Cys | |
| ENST00000518569.1:n.378-1893C>G | ||
| NM_017890.4:c.7337C>G , LRG_351t1:c.7337C>G | NP_060360.3:p.Ser2446Cys | |
| NM_152564.4:c.7262C>G , LRG_351t2:c.7262C>G | NP_689777.3:p.Ser2421Cys | |
| XM_005250800.2:c.7337C>G | XP_005250857.1:p.Ser2446Cys | |
| XM_005250801.3:c.7337C>G | XP_005250858.1:p.Ser2446Cys | |
| XM_011516848.1:c.7334C>G | XP_011515150.1:p.Ser2445Cys | |
| XM_011516849.1:c.7259C>G | XP_011515151.1:p.Ser2420Cys | |
| XM_011516850.1:c.6959C>G | XP_011515152.1:p.Ser2320Cys | |
| XM_011516851.1:c.4223C>G | XP_011515153.1:p.Ser1408Cys | |
| XM_011516852.1:c.4223C>G | XP_011515154.1:p.Ser1408Cys | |
| XM_011516853.1:c.7337C>G | XP_011515155.1:p.Ser2446Cys | |
| XM_011516854.1:c.3116C>G | XP_011515156.1:p.Ser1039Cys | |
| XR_928446.1:n.1830+5689G>C | ||
| XM_005250800.3:c.7337C>G | XP_005250857.1:p.Ser2446Cys | |
| XM_005250801.5:c.7337C>G | XP_005250858.1:p.Ser2446Cys | |
| XM_011516848.2:c.7334C>G | XP_011515150.1:p.Ser2445Cys | |
| XM_011516849.2:c.7259C>G | XP_011515151.1:p.Ser2420Cys | |
| XM_011516850.2:c.6959C>G | XP_011515152.1:p.Ser2320Cys | |
| XM_011516851.2:c.4223C>G | XP_011515153.1:p.Ser1408Cys | |
| XM_011516852.2:c.4223C>G | XP_011515154.1:p.Ser1408Cys | |
| XM_011516853.2:c.7337C>G | XP_011515155.1:p.Ser2446Cys | |
| XM_011516854.2:c.3116C>G | XP_011515156.1:p.Ser1039Cys | |
| XM_017013109.1:c.7142C>G | XP_016868598.1:p.Ser2381Cys | |
| XM_017013111.1:c.4223C>G | XP_016868600.1:p.Ser1408Cys | |
| XM_017013112.1:c.2894C>G | XP_016868601.1:p.Ser965Cys | |
| XM_024447074.1:c.6122C>G | XP_024302842.1:p.Ser2041Cys | |
| NM_017890.5:c.7337C>G MANE Plus Clinical | NP_060360.3:p.Ser2446Cys | |
| NM_152564.5:c.7262C>G MANE Select | NP_689777.3:p.Ser2421Cys |