Linked Data
ClinVar Variation Id:
323296
dbSNP Id:
rs146456266
ExAC:
17:40690692 G / A
gnomAD v2:
17-40690692-G-A
gnomAD v3:
17-42538674-G-A
gnomAD v4:
17-42538674-G-A
COSMIC:
COSM4066572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538674G>A , CM000679.2:g.42538674G>A | GRCh38 |
| NC_000017.10:g.40690692G>A , CM000679.1:g.40690692G>A | GRCh37 |
| NC_000017.9:g.37944218G>A | NCBI36 |
| NG_011552.1:g.7742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.683G>A MANE Select | ENSP00000225927.1:p.Arg228Gln | |
| ENST00000225927.6:c.683G>A | ENSP00000225927.1:p.Arg228Gln | |
| ENST00000586516.5:c.285G>A | ||
| ENST00000591587.1:c.278G>A | ENSP00000467836.1:p.Arg93Gln | |
| NM_000263.3:c.683G>A | NP_000254.2:p.Arg228Gln | |
| XM_006721920.2:c.-60G>A | XP_006721983.1:n.-60G>A | |
| XM_011524840.1:c.-60G>A | XP_011523142.1:n.-60G>A | |
| XM_017024687.1:c.-60G>A | XP_016880176.1:n.-60G>A | |
| XM_024450771.1:c.740G>A | XP_024306539.1:p.Arg247Gln | |
| XM_024450772.1:c.-60G>A | XP_024306540.1:n.-60G>A | |
| NM_000263.4:c.683G>A MANE Select | NP_000254.2:p.Arg228Gln |