Linked Data
ClinVar Variation Id:
362499
dbSNP Id:
rs574361484
ExAC:
8:21978728 G / A
gnomAD v2:
8-21978728-G-A
gnomAD v3:
8-22121215-G-A
gnomAD v4:
8-22121215-G-A
COSMIC:
COSM2785763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22121215G>A , CM000670.2:g.22121215G>A | GRCh38 |
| NC_000008.10:g.21978728G>A , CM000670.1:g.21978728G>A | GRCh37 |
| NC_000008.9:g.22034673G>A | NCBI36 |
| NG_008166.1:g.14303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.2217C>T MANE Select | ENSP00000370826.4:p.Ser739= | |
| ENST00000680789.1:c.2217C>T | ENSP00000505181.1:p.Ser739= | |
| ENST00000312841.9:c.2217C>T | ENSP00000326765.8:p.Ser739= | |
| ENST00000381418.8:c.2217C>T | ENSP00000370826.4:p.Ser739= | |
| ENST00000517699.2:c.158C>T | ||
| ENST00000518461.2:n.294C>T | ||
| NM_005144.4:c.2217C>T | NP_005135.2:p.Ser739= | |
| NM_018411.4:c.2217C>T | NP_060881.2:p.Ser739= | |
| XM_005273569.1:c.2220C>T | XP_005273626.1:p.Ser740= | |
| XM_006716367.1:c.2220C>T | XP_006716430.1:p.Ser740= | |
| XM_005273569.2:c.2220C>T | XP_005273626.1:p.Ser740= | |
| XM_006716367.2:c.2220C>T | XP_006716430.1:p.Ser740= | |
| NM_005144.5:c.2217C>T MANE Select | NP_005135.2:p.Ser739= |