Linked Data
ClinVar Variation Id:
377465
dbSNP Id:
rs746215829
ExAC:
22:50301430 G / A
gnomAD v2:
22-50301430-G-A
gnomAD v3:
22-49907782-G-A
gnomAD v4:
22-49907782-G-A
COSMIC:
COSM5651320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49907782G>A , CM000684.2:g.49907782G>A | GRCh38 |
| NC_000022.10:g.50301430G>A , CM000684.1:g.50301430G>A | GRCh37 |
| NC_000022.9:g.48687434G>A | NCBI36 |
| NG_008927.1:g.15677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.931C>T MANE Select | ENSP00000333813.5:p.Arg311Cys | |
| ENST00000330817.10:c.931C>T | ENSP00000333813.5:p.Arg311Cys | |
| ENST00000486602.1:c.137C>T | ||
| ENST00000492791.1:c.462C>T | ||
| NM_024105.3:c.931C>T | NP_077010.1:p.Arg311Cys | |
| XM_011530369.1:c.931C>T | XP_011528671.1:p.Arg311Cys | |
| XM_011530370.1:c.931C>T | XP_011528672.1:p.Arg311Cys | |
| XM_011530371.1:c.931C>T | XP_011528673.1:p.Arg311Cys | |
| XM_011530371.2:c.931C>T | XP_011528673.1:p.Arg311Cys | |
| XM_017028936.1:c.931C>T | XP_016884425.1:p.Arg311Cys | |
| XM_017028937.1:c.931C>T | XP_016884426.1:p.Arg311Cys | |
| NM_024105.4:c.931C>T MANE Select | NP_077010.1:p.Arg311Cys |