Linked Data
ClinVar Variation Id:
133644
dbSNP Id:
rs587778082
ExAC:
X:76954062 C / T
gnomAD v2:
X-76954062-C-T
gnomAD v3:
X-77698574-C-T
gnomAD v4:
X-77698574-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77698574C>T , CM000685.2:g.77698574C>T | GRCh38 |
| NC_000023.10:g.76954062C>T , CM000685.1:g.76954062C>T | GRCh37 |
| NC_000023.9:g.76840718C>T | NCBI36 |
| NG_008838.2:g.92648G>A | |
| NG_008838.3:g.92696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.189G>A MANE Select | ENSP00000362441.4:p.Glu63= | |
| ENST00000373344.9:c.189G>A | ENSP00000362441.4:p.Glu63= | |
| ENST00000395603.7:c.189G>A | ENSP00000378967.3:p.Glu63= | |
| ENST00000480283.5:c.189G>A | ENSP00000480196.1:p.Glu63= | |
| ENST00000622960.1:c.72G>A | ENSP00000485587.1:p.Glu24= | |
| ENST00000623321.3:c.24G>A | ENSP00000485127.1:p.Glu8= | |
| ENST00000624032.3:c.189G>A | ENSP00000485253.1:p.Glu63= | |
| ENST00000624166.3:c.189G>A | ENSP00000485103.1:p.Glu63= | |
| ENST00000624193.1:n.430G>A | ||
| ENST00000624668.3:c.24G>A | ENSP00000485100.1:p.Glu8= | |
| ENST00000625063.3:c.7G>A | ||
| NM_000489.4:c.189G>A | NP_000480.3:p.Glu63= | |
| NM_138270.3:c.189G>A | NP_612114.2:p.Glu63= | |
| XM_005262153.3:c.189G>A | XP_005262210.2:p.Glu63= | |
| XM_005262154.3:c.189G>A | XP_005262211.2:p.Glu63= | |
| XM_005262155.3:c.72G>A | XP_005262212.2:p.Glu24= | |
| XM_005262156.3:c.24G>A | XP_005262213.2:p.Glu8= | |
| XM_005262157.3:c.189G>A | XP_005262214.2:p.Glu63= | |
| XM_006724666.2:c.189G>A | XP_006724729.1:p.Glu63= | |
| XM_006724667.2:c.24G>A | XP_006724730.1:p.Glu8= | |
| XM_006724668.2:c.189G>A | XP_006724731.1:p.Glu63= | |
| XR_938400.1:n.457G>A | ||
| NM_000489.5:c.189G>A | NP_000480.3:p.Glu63= | |
| XM_005262153.5:c.189G>A | XP_005262210.2:p.Glu63= | |
| XM_005262154.5:c.189G>A | XP_005262211.2:p.Glu63= | |
| XM_005262155.4:c.72G>A | XP_005262212.2:p.Glu24= | |
| XM_005262156.4:c.24G>A | XP_005262213.2:p.Glu8= | |
| XM_005262157.5:c.189G>A | XP_005262214.2:p.Glu63= | |
| XM_006724666.4:c.189G>A | XP_006724729.1:p.Glu63= | |
| XM_006724667.3:c.24G>A | XP_006724730.1:p.Glu8= | |
| XM_006724668.3:c.189G>A | XP_006724731.1:p.Glu63= | |
| XM_017029601.2:c.189G>A | XP_016885090.1:p.Glu63= | |
| XM_017029602.1:c.72G>A | XP_016885091.1:p.Glu24= | |
| XM_017029603.1:c.24G>A | XP_016885092.1:p.Glu8= | |
| XM_017029604.2:c.189G>A | XP_016885093.1:p.Glu63= | |
| XM_017029605.1:c.72G>A | XP_016885094.1:p.Glu24= | |
| XM_017029606.2:c.72G>A | XP_016885095.1:p.Glu24= | |
| XM_017029607.2:c.72G>A | XP_016885096.1:p.Glu24= | |
| XM_017029608.2:c.24G>A | XP_016885097.1:p.Glu8= | |
| XM_017029609.1:c.72G>A | XP_016885098.1:p.Glu24= | |
| XM_017029610.1:c.72G>A | XP_016885099.1:p.Glu24= | |
| XM_017029611.1:c.24G>A | XP_016885100.1:p.Glu8= | |
| XR_001755700.2:n.414G>A | ||
| NM_138270.4:c.189G>A | NP_612114.2:p.Glu63= | |
| NM_000489.6:c.189G>A MANE Select | NP_000480.3:p.Glu63= | |
| NM_138270.5:c.189G>A | NP_612114.2:p.Glu63= |