Linked Data
ClinVar Variation Id:
1378558
ClinVar RCV Id:
RCV001881203
dbSNP Id:
rs746200411
ExAC:
20:31024054 A / G
gnomAD v2:
20-31024054-A-G
gnomAD v4:
20-32436251-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436251A>G , CM000682.2:g.32436251A>G | GRCh38 |
| NC_000020.10:g.31024054A>G , CM000682.1:g.31024054A>G | GRCh37 |
| NC_000020.9:g.30487715A>G | NCBI36 |
| NG_027868.1:g.82908A>G , LRG_630:g.82908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3539A>G MANE Select | ENSP00000364839.4:p.Asp1180Gly | |
| ENST00000646985.1:c.3356A>G | ENSP00000495053.1:p.Asp1119Gly | |
| ENST00000647223.1:n.5892A>G | ||
| ENST00000651418.1:c.1869+1670A>G | ENSP00000499150.1:n.1869+1670A>G | |
| ENST00000306058.9:c.3524A>G | ENSP00000305119.5:p.Asp1175Gly | |
| ENST00000375687.8:c.3539A>G | ENSP00000364839.4:p.Asp1180Gly | |
| ENST00000613218.4:c.3539A>G | ENSP00000480487.1:p.Asp1180Gly | |
| ENST00000620121.4:c.3539A>G | ENSP00000481978.1:p.Asp1180Gly | |
| NM_015338.5:c.3539A>G , LRG_630t1:c.3539A>G | NP_056153.2:p.Asp1180Gly | |
| XM_006723727.2:c.3536A>G | XP_006723790.1:p.Asp1179Gly | |
| XM_006723728.2:c.3509A>G | XP_006723791.1:p.Asp1170Gly | |
| XM_006723730.2:c.3455A>G | XP_006723793.1:p.Asp1152Gly | |
| XM_006723732.2:c.3356A>G | XP_006723795.1:p.Asp1119Gly | |
| XM_006723733.1:c.2855A>G | XP_006723796.1:p.Asp952Gly | |
| XM_011528647.1:c.3803A>G | XP_011526949.1:p.Asp1268Gly | |
| XM_011528648.1:c.3800A>G | XP_011526950.1:p.Asp1267Gly | |
| XM_011528649.1:c.3719A>G | XP_011526951.1:p.Asp1240Gly | |
| XM_011528650.1:c.3650A>G | XP_011526952.1:p.Asp1217Gly | |
| XM_011528651.1:c.3518A>G | XP_011526953.1:p.Asp1173Gly | |
| XM_011528652.1:c.3455A>G | XP_011526954.1:p.Asp1152Gly | |
| NM_001363734.1:c.3356A>G | NP_001350663.1:p.Asp1119Gly | |
| XM_006723727.3:c.3536A>G | XP_006723790.1:p.Asp1179Gly | |
| XM_006723728.3:c.3509A>G | XP_006723791.1:p.Asp1170Gly | |
| XM_006723730.4:c.3455A>G | XP_006723793.1:p.Asp1152Gly | |
| XM_011528648.3:c.3800A>G | XP_011526950.1:p.Asp1267Gly | |
| XM_011528652.2:c.3455A>G | XP_011526954.1:p.Asp1152Gly | |
| XM_017027704.1:c.3455A>G | XP_016883193.1:p.Asp1152Gly | |
| XM_017027705.1:c.3455A>G | XP_016883194.1:p.Asp1152Gly | |
| XM_017027706.1:c.3386A>G | XP_016883195.1:p.Asp1129Gly | |
| NM_015338.6:c.3539A>G MANE Select | NP_056153.2:p.Asp1180Gly |