Linked Data
ClinVar Variation Id:
2188044
ClinVar RCV Id:
RCV002616226
dbSNP Id:
rs757562094
ExAC:
20:31024492 C / G
gnomAD v2:
20-31024492-C-G
gnomAD v4:
20-32436689-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436689C>G , CM000682.2:g.32436689C>G | GRCh38 |
| NC_000020.10:g.31024492C>G , CM000682.1:g.31024492C>G | GRCh37 |
| NC_000020.9:g.30488153C>G | NCBI36 |
| NG_027868.1:g.83346C>G , LRG_630:g.83346C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3977C>G MANE Select | ENSP00000364839.4:p.Pro1326Arg | |
| ENST00000646985.1:c.3794C>G | ENSP00000495053.1:p.Pro1265Arg | |
| ENST00000647223.1:n.6330C>G | ||
| ENST00000651418.1:c.1870-1741C>G | ENSP00000499150.1:n.1870-1741C>G | |
| ENST00000306058.9:c.3962C>G | ENSP00000305119.5:p.Pro1321Arg | |
| ENST00000375687.8:c.3977C>G | ENSP00000364839.4:p.Pro1326Arg | |
| ENST00000613218.4:c.3977C>G | ENSP00000480487.1:p.Pro1326Arg | |
| ENST00000620121.4:c.3977C>G | ENSP00000481978.1:p.Pro1326Arg | |
| NM_015338.5:c.3977C>G , LRG_630t1:c.3977C>G | NP_056153.2:p.Pro1326Arg | |
| XM_006723727.2:c.3974C>G | XP_006723790.1:p.Pro1325Arg | |
| XM_006723728.2:c.3947C>G | XP_006723791.1:p.Pro1316Arg | |
| XM_006723730.2:c.3893C>G | XP_006723793.1:p.Pro1298Arg | |
| XM_006723732.2:c.3794C>G | XP_006723795.1:p.Pro1265Arg | |
| XM_006723733.1:c.3293C>G | XP_006723796.1:p.Pro1098Arg | |
| XM_011528647.1:c.4241C>G | XP_011526949.1:p.Pro1414Arg | |
| XM_011528648.1:c.4238C>G | XP_011526950.1:p.Pro1413Arg | |
| XM_011528649.1:c.4157C>G | XP_011526951.1:p.Pro1386Arg | |
| XM_011528650.1:c.4088C>G | XP_011526952.1:p.Pro1363Arg | |
| XM_011528651.1:c.3956C>G | XP_011526953.1:p.Pro1319Arg | |
| XM_011528652.1:c.3893C>G | XP_011526954.1:p.Pro1298Arg | |
| NM_001363734.1:c.3794C>G | NP_001350663.1:p.Pro1265Arg | |
| XM_006723727.3:c.3974C>G | XP_006723790.1:p.Pro1325Arg | |
| XM_006723728.3:c.3947C>G | XP_006723791.1:p.Pro1316Arg | |
| XM_006723730.4:c.3893C>G | XP_006723793.1:p.Pro1298Arg | |
| XM_011528648.3:c.4238C>G | XP_011526950.1:p.Pro1413Arg | |
| XM_011528652.2:c.3893C>G | XP_011526954.1:p.Pro1298Arg | |
| XM_017027704.1:c.3893C>G | XP_016883193.1:p.Pro1298Arg | |
| XM_017027705.1:c.3893C>G | XP_016883194.1:p.Pro1298Arg | |
| XM_017027706.1:c.3824C>G | XP_016883195.1:p.Pro1275Arg | |
| NM_015338.6:c.3977C>G MANE Select | NP_056153.2:p.Pro1326Arg |