Linked Data
ClinVar Variation Id:
429264
dbSNP Id:
rs762879569
ExAC:
20:3888588 G / A
gnomAD v4:
20-3907941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3907941G>A , CM000682.2:g.3907941G>A | GRCh38 |
| NC_000020.10:g.3888588G>A , CM000682.1:g.3888588G>A | GRCh37 |
| NC_000020.9:g.3836588G>A | NCBI36 |
| NG_008131.3:g.24103G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610179.7:c.314G>A MANE Select | ENSP00000477429.2:p.Gly105Glu | |
| ENST00000316562.9:c.644G>A | ENSP00000313377.4:p.Gly215Glu | |
| ENST00000336066.8:c.314G>A | ENSP00000477229.2:p.Gly105Glu | |
| ENST00000610179.6:c.314G>A | ENSP00000477429.2:p.Gly105Glu | |
| ENST00000643504.2:c.*87G>A | ENSP00000495157.2:n.*87G>A | |
| ENST00000646394.1:c.141G>A | ||
| ENST00000316562.8:c.644G>A | ENSP00000313377.4:p.Gly215Glu | |
| ENST00000336066.7:c.275G>A | ENSP00000477229.1:p.Gly92Glu | |
| ENST00000471830.1:n.188G>A | ||
| ENST00000495692.5:c.-522G>A | ENSP00000476745.1:n.-522G>A | |
| ENST00000497424.5:c.-230G>A | ENSP00000417609.1:n.-230G>A | |
| ENST00000610179.5:c.275G>A | ENSP00000477429.1:p.Gly92Glu | |
| ENST00000621507.1:c.-230G>A | ENSP00000481523.1:n.-230G>A | |
| NM_024960.4:c.-230G>A | NP_079236.3:n.-230G>A | |
| NM_153638.2:c.644G>A | NP_705902.2:p.Gly215Glu | |
| NM_153640.2:c.-230G>A | NP_705904.1:n.-230G>A | |
| XM_005260835.2:c.29G>A | XP_005260892.1:p.Gly10Glu | |
| XM_005260836.3:c.-230G>A | XP_005260893.3:n.-230G>A | |
| XM_006723631.1:c.-230G>A | XP_006723694.1:n.-230G>A | |
| XM_011529364.1:c.644G>A | XP_011527666.1:p.Gly215Glu | |
| XM_011529365.1:c.644G>A | XP_011527667.1:p.Gly215Glu | |
| NM_001324191.1:c.-230G>A | NP_001311120.1:n.-230G>A | |
| NM_001324192.1:c.644G>A | NP_001311121.1:p.Gly215Glu | |
| NM_001324193.1:c.-522G>A | NP_001311122.1:n.-522G>A | |
| NM_024960.5:c.-230G>A | NP_079236.3:n.-230G>A | |
| NM_153638.3:c.644G>A | NP_705902.2:p.Gly215Glu | |
| NM_153640.3:c.-230G>A | NP_705904.1:n.-230G>A | |
| NR_136715.1:n.811G>A | ||
| XM_005260835.3:c.29G>A | XP_005260892.1:p.Gly10Glu | |
| XM_005260836.4:c.-230G>A | XP_005260893.3:n.-230G>A | |
| XM_011529364.3:c.644G>A | XP_011527666.1:p.Gly215Glu | |
| XM_011529365.2:c.644G>A | XP_011527667.1:p.Gly215Glu | |
| XM_017028077.2:c.-522G>A | XP_016883566.1:n.-522G>A | |
| XM_017028078.2:c.-522G>A | XP_016883567.1:n.-522G>A | |
| XM_017028079.2:c.-522G>A | XP_016883568.1:n.-522G>A | |
| XM_024452002.1:c.-522G>A | XP_024307770.1:n.-522G>A | |
| XR_002958533.1:n.805G>A | ||
| NM_001324191.2:c.-230G>A | NP_001311120.1:n.-230G>A | |
| NM_001324193.2:c.-522G>A | NP_001311122.1:n.-522G>A | |
| NM_024960.6:c.-230G>A | NP_079236.3:n.-230G>A | |
| NR_136715.2:n.358G>A | ||
| NM_001386393.1:c.314G>A MANE Select | NP_001373322.1:p.Gly105Glu | |
| NM_153638.4:c.644G>A | NP_705902.2:p.Gly215Glu | |
| NM_153640.4:c.-230G>A | NP_705904.1:n.-230G>A |