Linked Data
ClinVar Variation Id:
2412675
ClinVar RCV Id:
RCV002789964
dbSNP Id:
rs752103260
ExAC:
1:46663438 C / T
gnomAD v2:
1-46663438-C-T
gnomAD v4:
1-46197766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46197766C>T , CM000663.2:g.46197766C>T | GRCh38 |
| NC_000001.10:g.46663438C>T , CM000663.1:g.46663438C>T | GRCh37 |
| NC_000001.9:g.46436025C>T | NCBI36 |
| NG_009205.2:g.27540G>A | |
| NG_009205.3:g.27540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.56G>A | ENSP00000379698.4:p.Arg19Gln | |
| ENST00000477114.2:n.228G>A | ||
| ENST00000497439.6:n.228G>A | ||
| ENST00000684817.1:n.224G>A | ||
| ENST00000684898.1:n.228G>A | ||
| ENST00000685230.1:c.56G>A | ENSP00000510305.1:p.Arg19Gln | |
| ENST00000685275.1:n.213G>A | ||
| ENST00000685444.1:c.56G>A | ENSP00000510762.1:p.Arg19Gln | |
| ENST00000685704.1:n.228G>A | ||
| ENST00000685775.1:n.228G>A | ||
| ENST00000685833.1:n.201G>A | ||
| ENST00000686252.1:n.357G>A | ||
| ENST00000686379.1:c.56G>A | ENSP00000508913.1:p.Arg19Gln | |
| ENST00000686724.1:n.228G>A | ||
| ENST00000686737.1:c.56G>A | ENSP00000508736.1:p.Arg19Gln | |
| ENST00000687112.1:n.228G>A | ||
| ENST00000687149.1:c.56G>A | ENSP00000509745.1:p.Arg19Gln | |
| ENST00000687197.1:c.56G>A | ENSP00000510749.1:p.Arg19Gln | |
| ENST00000687235.1:n.228G>A | ||
| ENST00000687613.1:n.224G>A | ||
| ENST00000687683.1:c.56G>A | ENSP00000508522.1:p.Arg19Gln | |
| ENST00000688032.1:n.228G>A | ||
| ENST00000688596.1:n.228G>A | ||
| ENST00000688608.1:c.56G>A | ENSP00000508890.1:p.Arg19Gln | |
| ENST00000688919.1:n.209G>A | ||
| ENST00000689031.1:n.228G>A | ||
| ENST00000689717.1:n.228G>A | ||
| ENST00000689756.1:c.56G>A | ENSP00000509023.1:p.Arg19Gln | |
| ENST00000690377.1:n.228G>A | ||
| ENST00000690678.1:c.56G>A | ENSP00000508703.1:p.Arg19Gln | |
| ENST00000691209.1:c.56G>A | ENSP00000510112.1:p.Arg19Gln | |
| ENST00000691243.1:c.56G>A | ENSP00000510654.1:p.Arg19Gln | |
| ENST00000692169.1:n.228G>A | ||
| ENST00000692202.1:n.224G>A | ||
| ENST00000692322.1:c.56G>A | ENSP00000509017.1:p.Arg19Gln | |
| ENST00000692369.1:c.56G>A | ENSP00000508453.1:p.Arg19Gln | |
| ENST00000692599.1:n.228G>A | ||
| ENST00000692635.1:c.56G>A | ENSP00000508425.1:p.Arg19Gln | |
| ENST00000693168.1:n.228G>A | ||
| ENST00000693218.1:c.56G>A | ENSP00000510577.1:p.Arg19Gln | |
| ENST00000693223.1:n.704G>A | ||
| ENST00000693365.1:n.182G>A | ||
| ENST00000371984.8:c.56G>A MANE Select | ENSP00000361052.3:p.Arg19Gln | |
| ENST00000371984.7:c.56G>A | ENSP00000361052.3:p.Arg19Gln | |
| ENST00000371992.1:c.56G>A | ENSP00000361060.1:p.Arg19Gln | |
| ENST00000396420.7:c.56G>A | ENSP00000379698.3:p.Arg19Gln | |
| ENST00000489985.1:n.337G>A | ||
| ENST00000497439.5:n.180G>A | ||
| NM_001243766.1:c.56G>A | NP_001230695.1:p.Arg19Gln | |
| NM_017739.3:c.56G>A | NP_060209.3:p.Arg19Gln | |
| XM_005271010.1:c.56G>A | XP_005271067.1:p.Arg19Gln | |
| XM_006710755.1:c.56G>A | XP_006710818.1:p.Arg19Gln | |
| XM_006710756.1:c.56G>A | XP_006710819.1:p.Arg19Gln | |
| XR_946706.1:n.215G>A | ||
| XM_017001690.1:c.56G>A | XP_016857179.1:p.Arg19Gln | |
| NM_001243766.2:c.56G>A | NP_001230695.2:p.Arg19Gln | |
| NM_017739.4:c.56G>A MANE Select | NP_060209.4:p.Arg19Gln |