Linked Data
ClinVar Variation Id:
1382282
ClinVar RCV Id:
RCV001897554
dbSNP Id:
rs1178916301
gnomAD v2:
20-31024107-G-A
gnomAD v4:
20-32436304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436304G>A , CM000682.2:g.32436304G>A | GRCh38 |
| NC_000020.10:g.31024107G>A , CM000682.1:g.31024107G>A | GRCh37 |
| NC_000020.9:g.30487768G>A | NCBI36 |
| NG_027868.1:g.82961G>A , LRG_630:g.82961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3592G>A MANE Select | ENSP00000364839.4:p.Gly1198Arg | |
| ENST00000646985.1:c.3409G>A | ENSP00000495053.1:p.Gly1137Arg | |
| ENST00000647223.1:n.5945G>A | ||
| ENST00000651418.1:c.1869+1723G>A | ENSP00000499150.1:n.1869+1723G>A | |
| ENST00000306058.9:c.3577G>A | ENSP00000305119.5:p.Gly1193Arg | |
| ENST00000375687.8:c.3592G>A | ENSP00000364839.4:p.Gly1198Arg | |
| ENST00000613218.4:c.3592G>A | ENSP00000480487.1:p.Gly1198Arg | |
| ENST00000620121.4:c.3592G>A | ENSP00000481978.1:p.Gly1198Arg | |
| NM_015338.5:c.3592G>A , LRG_630t1:c.3592G>A | NP_056153.2:p.Gly1198Arg | |
| XM_006723727.2:c.3589G>A | XP_006723790.1:p.Gly1197Arg | |
| XM_006723728.2:c.3562G>A | XP_006723791.1:p.Gly1188Arg | |
| XM_006723730.2:c.3508G>A | XP_006723793.1:p.Gly1170Arg | |
| XM_006723732.2:c.3409G>A | XP_006723795.1:p.Gly1137Arg | |
| XM_006723733.1:c.2908G>A | XP_006723796.1:p.Gly970Arg | |
| XM_011528647.1:c.3856G>A | XP_011526949.1:p.Gly1286Arg | |
| XM_011528648.1:c.3853G>A | XP_011526950.1:p.Gly1285Arg | |
| XM_011528649.1:c.3772G>A | XP_011526951.1:p.Gly1258Arg | |
| XM_011528650.1:c.3703G>A | XP_011526952.1:p.Gly1235Arg | |
| XM_011528651.1:c.3571G>A | XP_011526953.1:p.Gly1191Arg | |
| XM_011528652.1:c.3508G>A | XP_011526954.1:p.Gly1170Arg | |
| NM_001363734.1:c.3409G>A | NP_001350663.1:p.Gly1137Arg | |
| XM_006723727.3:c.3589G>A | XP_006723790.1:p.Gly1197Arg | |
| XM_006723728.3:c.3562G>A | XP_006723791.1:p.Gly1188Arg | |
| XM_006723730.4:c.3508G>A | XP_006723793.1:p.Gly1170Arg | |
| XM_011528648.3:c.3853G>A | XP_011526950.1:p.Gly1285Arg | |
| XM_011528652.2:c.3508G>A | XP_011526954.1:p.Gly1170Arg | |
| XM_017027704.1:c.3508G>A | XP_016883193.1:p.Gly1170Arg | |
| XM_017027705.1:c.3508G>A | XP_016883194.1:p.Gly1170Arg | |
| XM_017027706.1:c.3439G>A | XP_016883195.1:p.Gly1147Arg | |
| NM_015338.6:c.3592G>A MANE Select | NP_056153.2:p.Gly1198Arg |