Linked Data
ClinVar Variation Id:
2902525
ClinVar RCV Id:
RCV003733804
dbSNP Id:
rs202102305
ExAC:
20:31024270 A / G
gnomAD v2:
20-31024270-A-G
gnomAD v3:
20-32436467-A-G
gnomAD v4:
20-32436467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436467A>G , CM000682.2:g.32436467A>G | GRCh38 |
| NC_000020.10:g.31024270A>G , CM000682.1:g.31024270A>G | GRCh37 |
| NC_000020.9:g.30487931A>G | NCBI36 |
| NG_027868.1:g.83124A>G , LRG_630:g.83124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3755A>G MANE Select | ENSP00000364839.4:p.Asp1252Gly | |
| ENST00000646985.1:c.3572A>G | ENSP00000495053.1:p.Asp1191Gly | |
| ENST00000647223.1:n.6108A>G | ||
| ENST00000651418.1:c.1869+1886A>G | ENSP00000499150.1:n.1869+1886A>G | |
| ENST00000306058.9:c.3740A>G | ENSP00000305119.5:p.Asp1247Gly | |
| ENST00000375687.8:c.3755A>G | ENSP00000364839.4:p.Asp1252Gly | |
| ENST00000613218.4:c.3755A>G | ENSP00000480487.1:p.Asp1252Gly | |
| ENST00000620121.4:c.3755A>G | ENSP00000481978.1:p.Asp1252Gly | |
| NM_015338.5:c.3755A>G , LRG_630t1:c.3755A>G | NP_056153.2:p.Asp1252Gly | |
| XM_006723727.2:c.3752A>G | XP_006723790.1:p.Asp1251Gly | |
| XM_006723728.2:c.3725A>G | XP_006723791.1:p.Asp1242Gly | |
| XM_006723730.2:c.3671A>G | XP_006723793.1:p.Asp1224Gly | |
| XM_006723732.2:c.3572A>G | XP_006723795.1:p.Asp1191Gly | |
| XM_006723733.1:c.3071A>G | XP_006723796.1:p.Asp1024Gly | |
| XM_011528647.1:c.4019A>G | XP_011526949.1:p.Asp1340Gly | |
| XM_011528648.1:c.4016A>G | XP_011526950.1:p.Asp1339Gly | |
| XM_011528649.1:c.3935A>G | XP_011526951.1:p.Asp1312Gly | |
| XM_011528650.1:c.3866A>G | XP_011526952.1:p.Asp1289Gly | |
| XM_011528651.1:c.3734A>G | XP_011526953.1:p.Asp1245Gly | |
| XM_011528652.1:c.3671A>G | XP_011526954.1:p.Asp1224Gly | |
| NM_001363734.1:c.3572A>G | NP_001350663.1:p.Asp1191Gly | |
| XM_006723727.3:c.3752A>G | XP_006723790.1:p.Asp1251Gly | |
| XM_006723728.3:c.3725A>G | XP_006723791.1:p.Asp1242Gly | |
| XM_006723730.4:c.3671A>G | XP_006723793.1:p.Asp1224Gly | |
| XM_011528648.3:c.4016A>G | XP_011526950.1:p.Asp1339Gly | |
| XM_011528652.2:c.3671A>G | XP_011526954.1:p.Asp1224Gly | |
| XM_017027704.1:c.3671A>G | XP_016883193.1:p.Asp1224Gly | |
| XM_017027705.1:c.3671A>G | XP_016883194.1:p.Asp1224Gly | |
| XM_017027706.1:c.3602A>G | XP_016883195.1:p.Asp1201Gly | |
| NM_015338.6:c.3755A>G MANE Select | NP_056153.2:p.Asp1252Gly |