Linked Data
ClinVar Variation Id:
727527
dbSNP Id:
rs148785068
ExAC:
X:153688789 G / A
gnomAD v2:
X-153688789-G-A
gnomAD v3:
X-154460449-G-A
gnomAD v4:
X-154460449-G-A
COSMIC:
COSM3694452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154460449G>A , CM000685.2:g.154460449G>A | GRCh38 |
| NC_000023.10:g.153688789G>A , CM000685.1:g.153688789G>A | GRCh37 |
| NC_000023.9:g.153341983G>A | NCBI36 |
| NG_021298.2:g.7175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369682.4:c.266G>A MANE Select | ENSP00000358696.3:p.Arg89His | |
| ENST00000495040.1:n.146-650G>A | ||
| NM_017514.4:c.266G>A | NP_059984.3:p.Arg89His | |
| XM_005274705.3:c.266G>A | XP_005274762.2:p.Arg89His | |
| XM_005274706.3:c.20G>A | XP_005274763.2:p.Arg7His | |
| XM_006724829.2:c.266G>A | XP_006724892.1:p.Arg89His | |
| XR_430556.2:n.436G>A | ||
| XR_938509.1:n.436G>A | ||
| XR_938510.1:n.436G>A | ||
| XM_005274705.4:c.266G>A | XP_005274762.2:p.Arg89His | |
| XM_005274706.4:c.20G>A | XP_005274763.2:p.Arg7His | |
| XM_006724829.3:c.266G>A | XP_006724892.1:p.Arg89His | |
| XR_001755709.1:n.435G>A | ||
| XR_002958778.1:n.435G>A | ||
| XR_430556.3:n.435G>A | ||
| XR_938510.2:n.435G>A | ||
| NM_017514.5:c.266G>A MANE Select | NP_059984.3:p.Arg89His |