Linked Data
ClinVar Variation Id:
1352630
ClinVar RCV Id:
RCV002049510
dbSNP Id:
rs560866003
gnomAD v4:
20-32436661-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436661C>A , CM000682.2:g.32436661C>A | GRCh38 |
| NC_000020.10:g.31024464C>A , CM000682.1:g.31024464C>A | GRCh37 |
| NC_000020.9:g.30488125C>A | NCBI36 |
| NG_027868.1:g.83318C>A , LRG_630:g.83318C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3949C>A MANE Select | ENSP00000364839.4:p.Pro1317Thr | |
| ENST00000646985.1:c.3766C>A | ENSP00000495053.1:p.Pro1256Thr | |
| ENST00000647223.1:n.6302C>A | ||
| ENST00000651418.1:c.1870-1769C>A | ENSP00000499150.1:n.1870-1769C>A | |
| ENST00000306058.9:c.3934C>A | ENSP00000305119.5:p.Pro1312Thr | |
| ENST00000375687.8:c.3949C>A | ENSP00000364839.4:p.Pro1317Thr | |
| ENST00000613218.4:c.3949C>A | ENSP00000480487.1:p.Pro1317Thr | |
| ENST00000620121.4:c.3949C>A | ENSP00000481978.1:p.Pro1317Thr | |
| NM_015338.5:c.3949C>A , LRG_630t1:c.3949C>A | NP_056153.2:p.Pro1317Thr | |
| XM_006723727.2:c.3946C>A | XP_006723790.1:p.Pro1316Thr | |
| XM_006723728.2:c.3919C>A | XP_006723791.1:p.Pro1307Thr | |
| XM_006723730.2:c.3865C>A | XP_006723793.1:p.Pro1289Thr | |
| XM_006723732.2:c.3766C>A | XP_006723795.1:p.Pro1256Thr | |
| XM_006723733.1:c.3265C>A | XP_006723796.1:p.Pro1089Thr | |
| XM_011528647.1:c.4213C>A | XP_011526949.1:p.Pro1405Thr | |
| XM_011528648.1:c.4210C>A | XP_011526950.1:p.Pro1404Thr | |
| XM_011528649.1:c.4129C>A | XP_011526951.1:p.Pro1377Thr | |
| XM_011528650.1:c.4060C>A | XP_011526952.1:p.Pro1354Thr | |
| XM_011528651.1:c.3928C>A | XP_011526953.1:p.Pro1310Thr | |
| XM_011528652.1:c.3865C>A | XP_011526954.1:p.Pro1289Thr | |
| NM_001363734.1:c.3766C>A | NP_001350663.1:p.Pro1256Thr | |
| XM_006723727.3:c.3946C>A | XP_006723790.1:p.Pro1316Thr | |
| XM_006723728.3:c.3919C>A | XP_006723791.1:p.Pro1307Thr | |
| XM_006723730.4:c.3865C>A | XP_006723793.1:p.Pro1289Thr | |
| XM_011528648.3:c.4210C>A | XP_011526950.1:p.Pro1404Thr | |
| XM_011528652.2:c.3865C>A | XP_011526954.1:p.Pro1289Thr | |
| XM_017027704.1:c.3865C>A | XP_016883193.1:p.Pro1289Thr | |
| XM_017027705.1:c.3865C>A | XP_016883194.1:p.Pro1289Thr | |
| XM_017027706.1:c.3796C>A | XP_016883195.1:p.Pro1266Thr | |
| NM_015338.6:c.3949C>A MANE Select | NP_056153.2:p.Pro1317Thr |