Linked Data
dbSNP Id:
rs755170442
ExAC:
20:31024075 G / A
gnomAD v2:
20-31024075-G-A
gnomAD v4:
20-32436272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436272G>A , CM000682.2:g.32436272G>A | GRCh38 |
| NC_000020.10:g.31024075G>A , CM000682.1:g.31024075G>A | GRCh37 |
| NC_000020.9:g.30487736G>A | NCBI36 |
| NG_027868.1:g.82929G>A , LRG_630:g.82929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3560G>A MANE Select | ENSP00000364839.4:p.Gly1187Asp | |
| ENST00000646985.1:c.3377G>A | ENSP00000495053.1:p.Gly1126Asp | |
| ENST00000647223.1:n.5913G>A | ||
| ENST00000651418.1:c.1869+1691G>A | ENSP00000499150.1:n.1869+1691G>A | |
| ENST00000306058.9:c.3545G>A | ENSP00000305119.5:p.Gly1182Asp | |
| ENST00000375687.8:c.3560G>A | ENSP00000364839.4:p.Gly1187Asp | |
| ENST00000613218.4:c.3560G>A | ENSP00000480487.1:p.Gly1187Asp | |
| ENST00000620121.4:c.3560G>A | ENSP00000481978.1:p.Gly1187Asp | |
| NM_015338.5:c.3560G>A , LRG_630t1:c.3560G>A | NP_056153.2:p.Gly1187Asp | |
| XM_006723727.2:c.3557G>A | XP_006723790.1:p.Gly1186Asp | |
| XM_006723728.2:c.3530G>A | XP_006723791.1:p.Gly1177Asp | |
| XM_006723730.2:c.3476G>A | XP_006723793.1:p.Gly1159Asp | |
| XM_006723732.2:c.3377G>A | XP_006723795.1:p.Gly1126Asp | |
| XM_006723733.1:c.2876G>A | XP_006723796.1:p.Gly959Asp | |
| XM_011528647.1:c.3824G>A | XP_011526949.1:p.Gly1275Asp | |
| XM_011528648.1:c.3821G>A | XP_011526950.1:p.Gly1274Asp | |
| XM_011528649.1:c.3740G>A | XP_011526951.1:p.Gly1247Asp | |
| XM_011528650.1:c.3671G>A | XP_011526952.1:p.Gly1224Asp | |
| XM_011528651.1:c.3539G>A | XP_011526953.1:p.Gly1180Asp | |
| XM_011528652.1:c.3476G>A | XP_011526954.1:p.Gly1159Asp | |
| NM_001363734.1:c.3377G>A | NP_001350663.1:p.Gly1126Asp | |
| XM_006723727.3:c.3557G>A | XP_006723790.1:p.Gly1186Asp | |
| XM_006723728.3:c.3530G>A | XP_006723791.1:p.Gly1177Asp | |
| XM_006723730.4:c.3476G>A | XP_006723793.1:p.Gly1159Asp | |
| XM_011528648.3:c.3821G>A | XP_011526950.1:p.Gly1274Asp | |
| XM_011528652.2:c.3476G>A | XP_011526954.1:p.Gly1159Asp | |
| XM_017027704.1:c.3476G>A | XP_016883193.1:p.Gly1159Asp | |
| XM_017027705.1:c.3476G>A | XP_016883194.1:p.Gly1159Asp | |
| XM_017027706.1:c.3407G>A | XP_016883195.1:p.Gly1136Asp | |
| NM_015338.6:c.3560G>A MANE Select | NP_056153.2:p.Gly1187Asp |