Linked Data
ClinVar Variation Id:
526630
dbSNP Id:
rs546381069
ExAC:
20:3870130 G / A
gnomAD v2:
20-3870130-G-A
gnomAD v3:
20-3889483-G-A
gnomAD v4:
20-3889483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3889483G>A , CM000682.2:g.3889483G>A | GRCh38 |
| NC_000020.10:g.3870130G>A , CM000682.1:g.3870130G>A | GRCh37 |
| NC_000020.9:g.3818130G>A | NCBI36 |
| NG_008131.3:g.5645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.53G>A MANE Select | ENSP00000477429.2:p.Arg18Gln | |
| ENST00000316562.9:c.383G>A | ENSP00000313377.4:p.Arg128Gln | |
| ENST00000336066.8:c.53G>A | ENSP00000477229.2:p.Arg18Gln | |
| ENST00000610179.6:c.53G>A | ENSP00000477429.2:p.Arg18Gln | |
| ENST00000643504.2:c.53G>A | ENSP00000495157.2:p.Arg18Gln | |
| ENST00000316562.8:c.383G>A | ENSP00000313377.4:p.Arg128Gln | |
| ENST00000336066.7:c.14G>A | ENSP00000477229.1:p.Arg5Gln | |
| ENST00000495692.5:c.-538+467G>A | ENSP00000476745.1:n.-538+467G>A | |
| ENST00000497424.5:c.-246+579G>A | ENSP00000417609.1:n.-246+579G>A | |
| ENST00000610179.5:c.14G>A | ENSP00000477429.1:p.Arg5Gln | |
| NM_024960.4:c.-246+579G>A | NP_079236.3:n.-246+579G>A | |
| NM_153638.2:c.383G>A | NP_705902.2:p.Arg128Gln | |
| XM_005260836.3:c.-246+467G>A | XP_005260893.3:n.-246+467G>A | |
| XM_011529364.1:c.383G>A | XP_011527666.1:p.Arg128Gln | |
| XM_011529365.1:c.383G>A | XP_011527667.1:p.Arg128Gln | |
| NM_001324191.1:c.-659G>A | NP_001311120.1:n.-659G>A | |
| NM_001324192.1:c.383G>A | NP_001311121.1:p.Arg128Gln | |
| NM_024960.5:c.-246+579G>A | NP_079236.3:n.-246+579G>A | |
| NM_153638.3:c.383G>A | NP_705902.2:p.Arg128Gln | |
| NR_136715.1:n.550G>A | ||
| XM_005260836.4:c.-246+467G>A | XP_005260893.3:n.-246+467G>A | |
| XM_011529364.3:c.383G>A | XP_011527666.1:p.Arg128Gln | |
| XM_011529365.2:c.383G>A | XP_011527667.1:p.Arg128Gln | |
| XM_017028079.2:c.-538+467G>A | XP_016883568.1:n.-538+467G>A | |
| XM_024452002.1:c.-538+579G>A | XP_024307770.1:n.-538+579G>A | |
| XR_002958533.1:n.544G>A | ||
| NM_001324191.2:c.-659G>A | NP_001311120.1:n.-659G>A | |
| NM_024960.6:c.-246+579G>A | NP_079236.3:n.-246+579G>A | |
| NR_136715.2:n.97G>A | ||
| NM_001386393.1:c.53G>A MANE Select | NP_001373322.1:p.Arg18Gln | |
| NM_153638.4:c.383G>A | NP_705902.2:p.Arg128Gln |