Linked Data
ClinVar Variation Id:
307702
ClinVar RCV Id:
RCV000348603
dbSNP Id:
rs745345996
ExAC:
12:132425936 G / A
gnomAD v2:
12-132425936-G-A
gnomAD v3:
12-131941391-G-A
gnomAD v4:
12-131941391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941391G>A , CM000674.2:g.131941391G>A | GRCh38 |
| NC_000012.11:g.132425936G>A , CM000674.1:g.132425936G>A | GRCh37 |
| NC_000012.10:g.130991889G>A | NCBI36 |
| NG_013039.1:g.17192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.644G>A MANE Select | ENSP00000365837.3:p.Arg215Gln | |
| ENST00000322060.9:c.560G>A | ENSP00000324726.5:p.Arg187Gln | |
| ENST00000376649.7:c.644G>A | ENSP00000365837.3:p.Arg215Gln | |
| ENST00000443358.6:c.560G>A | ENSP00000392451.2:p.Arg187Gln | |
| ENST00000535067.5:c.358-2148G>A | ENSP00000443969.1:n.358-2148G>A | |
| ENST00000537484.1:c.569G>A | ENSP00000440179.1:p.Arg190Gln | |
| ENST00000542167.2:c.485G>A | ENSP00000438948.1:p.Arg162Gln | |
| ENST00000543754.1:n.465G>A | ||
| NM_001002019.2:c.560G>A | NP_001002019.1:p.Arg187Gln | |
| NM_001002020.2:c.560G>A | NP_001002020.1:p.Arg187Gln | |
| NM_025215.5:c.644G>A | NP_079491.2:p.Arg215Gln | |
| XM_011538768.1:c.245G>A | XP_011537070.1:p.Arg82Gln | |
| XM_011538768.3:c.245G>A | XP_011537070.1:p.Arg82Gln | |
| XR_001748872.1:n.1099G>A | ||
| NM_001002019.3:c.560G>A | NP_001002019.1:p.Arg187Gln | |
| NM_001002020.3:c.560G>A | NP_001002020.1:p.Arg187Gln | |
| NM_025215.6:c.644G>A MANE Select | NP_079491.2:p.Arg215Gln |