Linked Data
ClinVar Variation Id:
227052
dbSNP Id:
rs117385282
ExAC:
21:43896143 C / T
gnomAD v2:
21-43896143-C-T
gnomAD v3:
21-42476033-C-T
gnomAD v4:
21-42476033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42476033C>T , CM000683.2:g.42476033C>T | GRCh38 |
| NC_000021.8:g.43896143C>T , CM000683.1:g.43896143C>T | GRCh37 |
| NC_000021.7:g.42769212C>T | NCBI36 |
| NG_034257.1:g.25322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.742G>A MANE Select | ENSP00000291536.3:p.Gly248Arg | |
| ENST00000291536.7:c.742G>A | ENSP00000291536.3:p.Gly248Arg | |
| ENST00000398352.3:c.628G>A | ENSP00000381395.3:p.Gly210Arg | |
| ENST00000493019.1:n.2360G>A | ||
| NM_001286506.1:c.628G>A | NP_001273435.1:p.Gly210Arg | |
| NM_080860.3:c.742G>A | NP_543136.1:p.Gly248Arg | |
| XM_005261208.1:c.535G>A | XP_005261265.1:p.Gly179Arg | |
| XM_011529786.1:c.670G>A | XP_011528088.1:p.Gly224Arg | |
| XM_005261208.2:c.535G>A | XP_005261265.1:p.Gly179Arg | |
| NM_080860.4:c.742G>A MANE Select | NP_543136.1:p.Gly248Arg | |
| NM_001286506.2:c.628G>A | NP_001273435.1:p.Gly210Arg |