Linked Data
ClinVar Variation Id:
4548
dbSNP Id:
rs137852959
ExAC:
20:3899342 G / A
gnomAD v2:
20-3899342-G-A
gnomAD v3:
20-3918695-G-A
gnomAD v4:
20-3918695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3918695G>A , CM000682.2:g.3918695G>A | GRCh38 |
| NC_000020.10:g.3899342G>A , CM000682.1:g.3899342G>A | GRCh37 |
| NC_000020.9:g.3847342G>A | NCBI36 |
| NG_008131.3:g.34857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610179.7:c.1231G>A MANE Select | ENSP00000477429.2:p.Gly411Arg | |
| ENST00000316562.9:c.1561G>A | ENSP00000313377.4:p.Gly521Arg | |
| ENST00000336066.8:c.*572G>A | ENSP00000477229.2:n.*572G>A | |
| ENST00000610179.6:c.1231G>A | ENSP00000477429.2:p.Gly411Arg | |
| ENST00000643504.2:c.*861G>A | ENSP00000495157.2:n.*861G>A | |
| ENST00000646394.1:c.1058G>A | ||
| ENST00000316562.8:c.1561G>A | ENSP00000313377.4:p.Gly521Arg | |
| ENST00000336066.7:c.*572G>A | ENSP00000477229.1:n.*572G>A | |
| ENST00000495692.5:c.253G>A | ENSP00000476745.1:p.Gly85Arg | |
| ENST00000497424.5:c.688G>A | ENSP00000417609.1:p.Gly230Arg | |
| ENST00000610179.5:c.1192G>A | ENSP00000477429.1:p.Gly398Arg | |
| ENST00000621507.1:c.688G>A | ENSP00000481523.1:p.Gly230Arg | |
| NM_024960.4:c.688G>A | NP_079236.3:p.Gly230Arg | |
| NM_153638.2:c.1561G>A | NP_705902.2:p.Gly521Arg | |
| NM_153640.2:c.688G>A | NP_705904.1:p.Gly230Arg | |
| XM_005260835.2:c.946G>A | XP_005260892.1:p.Gly316Arg | |
| XM_005260836.3:c.688G>A | XP_005260893.3:p.Gly230Arg | |
| XM_006723631.1:c.688G>A | XP_006723694.1:p.Gly230Arg | |
| XM_011529364.1:c.1384G>A | XP_011527666.1:p.Gly462Arg | |
| NM_001324191.1:c.688G>A | NP_001311120.1:p.Gly230Arg | |
| NM_001324193.1:c.253G>A | NP_001311122.1:p.Gly85Arg | |
| NM_024960.5:c.688G>A | NP_079236.3:p.Gly230Arg | |
| NM_153638.3:c.1561G>A | NP_705902.2:p.Gly521Arg | |
| NM_153640.3:c.688G>A | NP_705904.1:p.Gly230Arg | |
| NR_136715.1:n.1585G>A | ||
| XM_005260835.3:c.946G>A | XP_005260892.1:p.Gly316Arg | |
| XM_005260836.4:c.688G>A | XP_005260893.3:p.Gly230Arg | |
| XM_011529364.3:c.1384G>A | XP_011527666.1:p.Gly462Arg | |
| XM_017028077.2:c.253G>A | XP_016883566.1:p.Gly85Arg | |
| XM_017028078.2:c.253G>A | XP_016883567.1:p.Gly85Arg | |
| XM_017028079.2:c.253G>A | XP_016883568.1:p.Gly85Arg | |
| XM_024452002.1:c.253G>A | XP_024307770.1:p.Gly85Arg | |
| XR_002958533.1:n.2349G>A | ||
| NM_001324191.2:c.688G>A | NP_001311120.1:p.Gly230Arg | |
| NM_001324193.2:c.253G>A | NP_001311122.1:p.Gly85Arg | |
| NM_024960.6:c.688G>A | NP_079236.3:p.Gly230Arg | |
| NR_136715.2:n.1132G>A | ||
| NM_001386393.1:c.1231G>A MANE Select | NP_001373322.1:p.Gly411Arg | |
| NM_153638.4:c.1561G>A | NP_705902.2:p.Gly521Arg | |
| NM_153640.4:c.688G>A | NP_705904.1:p.Gly230Arg |