Linked Data
ClinVar Variation Id:
208405
dbSNP Id:
rs200042650
ExAC:
X:153692763 G / A
gnomAD v2:
X-153692763-G-A
gnomAD v3:
X-154464420-G-A
gnomAD v4:
X-154464420-G-A
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154464420G>A , CM000685.2:g.154464420G>A | GRCh38 |
| NC_000023.10:g.153692763G>A , CM000685.1:g.153692763G>A | GRCh37 |
| NC_000023.9:g.153345957G>A | NCBI36 |
| NG_021298.2:g.11146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369682.4:c.1847G>A MANE Select | ENSP00000358696.3:p.Arg616Gln | |
| NM_017514.4:c.1847G>A | NP_059984.3:p.Arg616Gln | |
| XM_005274705.3:c.1847G>A | XP_005274762.2:p.Arg616Gln | |
| XM_005274706.3:c.1601G>A | XP_005274763.2:p.Arg534Gln | |
| XM_006724829.2:c.1847G>A | XP_006724892.1:p.Arg616Gln | |
| XM_011531183.1:c.1286G>A | XP_011529485.1:p.Arg429Gln | |
| XR_430556.2:n.2017G>A | ||
| XR_938509.1:n.2017G>A | ||
| XR_938510.1:n.2017G>A | ||
| XM_005274705.4:c.1847G>A | XP_005274762.2:p.Arg616Gln | |
| XM_005274706.4:c.1601G>A | XP_005274763.2:p.Arg534Gln | |
| XM_006724829.3:c.1847G>A | XP_006724892.1:p.Arg616Gln | |
| XM_011531183.2:c.1286G>A | XP_011529485.1:p.Arg429Gln | |
| XR_001755709.1:n.2016G>A | ||
| XR_002958778.1:n.2016G>A | ||
| XR_430556.3:n.2016G>A | ||
| XR_938510.2:n.2016G>A | ||
| NM_017514.5:c.1847G>A MANE Select | NP_059984.3:p.Arg616Gln |