Linked Data
ClinVar Variation Id:
191160
dbSNP Id:
rs750955319
ExAC:
20:31016207 C / A
gnomAD v2:
20-31016207-C-A
gnomAD v4:
20-32428404-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32428404C>A , CM000682.2:g.32428404C>A | GRCh38 |
| NC_000020.10:g.31016207C>A , CM000682.1:g.31016207C>A | GRCh37 |
| NC_000020.9:g.30479868C>A | NCBI36 |
| NG_027868.1:g.75061C>A , LRG_630:g.75061C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375687.10:c.453C>A MANE Select | ENSP00000364839.4:p.Ser151Arg | |
| ENST00000470145.3:n.472C>A | ||
| ENST00000643168.1:c.369C>A | ENSP00000495003.1:p.Ser123Arg | |
| ENST00000644587.1:c.*292C>A | ENSP00000494813.1:n.*292C>A | |
| ENST00000644615.1:n.157C>A | ||
| ENST00000645514.1:n.277C>A | ||
| ENST00000646985.1:c.423C>A | ENSP00000495053.1:p.Ser141Arg | |
| ENST00000651418.1:c.453C>A | ENSP00000499150.1:p.Ser151Arg | |
| ENST00000306058.9:c.438C>A | ENSP00000305119.5:p.Ser146Arg | |
| ENST00000375687.8:c.453C>A | ENSP00000364839.4:p.Ser151Arg | |
| ENST00000470145.2:n.472C>A | ||
| ENST00000613218.4:c.453C>A | ENSP00000480487.1:p.Ser151Arg | |
| ENST00000620121.4:c.453C>A | ENSP00000481978.1:p.Ser151Arg | |
| NM_015338.5:c.453C>A , LRG_630t1:c.453C>A | NP_056153.2:p.Ser151Arg | |
| XM_006723727.2:c.450C>A | XP_006723790.1:p.Ser150Arg | |
| XM_006723728.2:c.423C>A | XP_006723791.1:p.Ser141Arg | |
| XM_006723730.2:c.369C>A | XP_006723793.1:p.Ser123Arg | |
| XM_006723732.2:c.423C>A | XP_006723795.1:p.Ser141Arg | |
| XM_011528647.1:c.717C>A | XP_011526949.1:p.Ser239Arg | |
| XM_011528648.1:c.714C>A | XP_011526950.1:p.Ser238Arg | |
| XM_011528649.1:c.633C>A | XP_011526951.1:p.Ser211Arg | |
| XM_011528650.1:c.717C>A | XP_011526952.1:p.Ser239Arg | |
| XM_011528651.1:c.432C>A | XP_011526953.1:p.Ser144Arg | |
| XM_011528652.1:c.369C>A | XP_011526954.1:p.Ser123Arg | |
| NM_001363734.1:c.423C>A | NP_001350663.1:p.Ser141Arg | |
| XM_006723727.3:c.450C>A | XP_006723790.1:p.Ser150Arg | |
| XM_006723728.3:c.423C>A | XP_006723791.1:p.Ser141Arg | |
| XM_006723730.4:c.369C>A | XP_006723793.1:p.Ser123Arg | |
| XM_011528648.3:c.714C>A | XP_011526950.1:p.Ser238Arg | |
| XM_011528652.2:c.369C>A | XP_011526954.1:p.Ser123Arg | |
| XM_017027704.1:c.369C>A | XP_016883193.1:p.Ser123Arg | |
| XM_017027705.1:c.369C>A | XP_016883194.1:p.Ser123Arg | |
| XM_017027706.1:c.453C>A | XP_016883195.1:p.Ser151Arg | |
| NM_015338.6:c.453C>A MANE Select | NP_056153.2:p.Ser151Arg |