Linked Data
ClinVar Variation Id:
316669
dbSNP Id:
rs200889722
ExAC:
15:58840718 G / A
gnomAD v2:
15-58840718-G-A
gnomAD v3:
15-58548519-G-A
gnomAD v4:
15-58548519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58548519G>A , CM000677.2:g.58548519G>A | GRCh38 |
| NC_000015.9:g.58840718G>A , CM000677.1:g.58840718G>A | GRCh37 |
| NC_000015.8:g.56628010G>A | NCBI36 |
| NG_011465.1:g.121544G>A | |
| NG_011465.2:g.121544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.998G>A MANE Select | ENSP00000299022.5:p.Arg333Gln | |
| ENST00000299022.9:c.998G>A | ENSP00000299022.5:p.Arg333Gln | |
| ENST00000356113.10:c.998G>A | ENSP00000348425.6:p.Arg333Gln | |
| ENST00000414170.7:c.998G>A | ENSP00000395569.3:p.Arg333Gln | |
| ENST00000433326.2:c.815G>A | ENSP00000395002.2:p.Arg272Gln | |
| ENST00000559845.5:n.855G>A | ||
| ENST00000560664.1:n.762G>A | ||
| NM_000236.2:c.998G>A | NP_000227.2:p.Arg333Gln | |
| XM_005254372.1:c.998G>A | XP_005254429.1:p.Arg333Gln | |
| XM_005254374.3:c.935G>A | XP_005254431.1:p.Arg312Gln | |
| XM_006720502.2:c.857G>A | XP_006720565.1:p.Arg286Gln | |
| XM_011521551.1:c.998G>A | XP_011519853.1:p.Arg333Gln | |
| XM_005254374.4:c.1034G>A | XP_005254431.2:p.Arg345Gln | |
| XM_006720502.4:c.857G>A | XP_006720565.1:p.Arg286Gln | |
| XM_017022176.1:c.1034G>A | XP_016877665.1:p.Arg345Gln | |
| XM_024449916.1:c.998G>A | XP_024305684.1:p.Arg333Gln | |
| XM_024449917.1:c.998G>A | XP_024305685.1:p.Arg333Gln | |
| NM_000236.3:c.998G>A MANE Select | NP_000227.2:p.Arg333Gln |