Linked Data
ClinVar Variation Id:
1399457
ClinVar RCV Id:
RCV001922807
dbSNP Id:
rs748780222
ExAC:
20:3870058 A / C
gnomAD v2:
20-3870058-A-C
gnomAD v4:
20-3889411-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3889411A>C , CM000682.2:g.3889411A>C | GRCh38 |
| NC_000020.10:g.3870058A>C , CM000682.1:g.3870058A>C | GRCh37 |
| NC_000020.9:g.3818058A>C | NCBI36 |
| NG_008131.3:g.5573A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.-20A>C MANE Select | ENSP00000477429.2:n.-20A>C | |
| ENST00000316562.9:c.311A>C | ENSP00000313377.4:p.Glu104Ala | |
| ENST00000336066.8:c.-20A>C | ENSP00000477229.2:n.-20A>C | |
| ENST00000610179.6:c.-20A>C | ENSP00000477429.2:n.-20A>C | |
| ENST00000643504.2:c.-20A>C | ENSP00000495157.2:n.-20A>C | |
| ENST00000316562.8:c.311A>C | ENSP00000313377.4:p.Glu104Ala | |
| ENST00000336066.7:c.-59A>C | ENSP00000477229.1:n.-59A>C | |
| ENST00000495692.5:c.-538+395A>C | ENSP00000476745.1:n.-538+395A>C | |
| ENST00000497424.5:c.-246+507A>C | ENSP00000417609.1:n.-246+507A>C | |
| NM_024960.4:c.-246+507A>C | NP_079236.3:n.-246+507A>C | |
| NM_153638.2:c.311A>C | NP_705902.2:p.Glu104Ala | |
| XM_005260836.3:c.-246+395A>C | XP_005260893.3:n.-246+395A>C | |
| XM_011529364.1:c.311A>C | XP_011527666.1:p.Glu104Ala | |
| XM_011529365.1:c.311A>C | XP_011527667.1:p.Glu104Ala | |
| NM_001324191.1:c.-731A>C | NP_001311120.1:n.-731A>C | |
| NM_001324192.1:c.311A>C | NP_001311121.1:p.Glu104Ala | |
| NM_024960.5:c.-246+507A>C | NP_079236.3:n.-246+507A>C | |
| NM_153638.3:c.311A>C | NP_705902.2:p.Glu104Ala | |
| NR_136715.1:n.478A>C | ||
| XM_005260836.4:c.-246+395A>C | XP_005260893.3:n.-246+395A>C | |
| XM_011529364.3:c.311A>C | XP_011527666.1:p.Glu104Ala | |
| XM_011529365.2:c.311A>C | XP_011527667.1:p.Glu104Ala | |
| XM_017028079.2:c.-538+395A>C | XP_016883568.1:n.-538+395A>C | |
| XM_024452002.1:c.-538+507A>C | XP_024307770.1:n.-538+507A>C | |
| XR_002958533.1:n.472A>C | ||
| NM_001324191.2:c.-731A>C | NP_001311120.1:n.-731A>C | |
| NM_024960.6:c.-246+507A>C | NP_079236.3:n.-246+507A>C | |
| NR_136715.2:n.25A>C | ||
| NM_001386393.1:c.-20A>C MANE Select | NP_001373322.1:n.-20A>C | |
| NM_153638.4:c.311A>C | NP_705902.2:p.Glu104Ala |