Linked Data
ClinVar Variation Id:
1949895
ClinVar RCV Id:
RCV002659575
dbSNP Id:
rs756613874
ExAC:
20:31024214 G / A
gnomAD v2:
20-31024214-G-A
gnomAD v3:
20-32436411-G-A
gnomAD v4:
20-32436411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436411G>A , CM000682.2:g.32436411G>A | GRCh38 |
| NC_000020.10:g.31024214G>A , CM000682.1:g.31024214G>A | GRCh37 |
| NC_000020.9:g.30487875G>A | NCBI36 |
| NG_027868.1:g.83068G>A , LRG_630:g.83068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3699G>A MANE Select | ENSP00000364839.4:p.Glu1233= | |
| ENST00000646985.1:c.3516G>A | ENSP00000495053.1:p.Glu1172= | |
| ENST00000647223.1:n.6052G>A | ||
| ENST00000651418.1:c.1869+1830G>A | ENSP00000499150.1:n.1869+1830G>A | |
| ENST00000306058.9:c.3684G>A | ENSP00000305119.5:p.Glu1228= | |
| ENST00000375687.8:c.3699G>A | ENSP00000364839.4:p.Glu1233= | |
| ENST00000613218.4:c.3699G>A | ENSP00000480487.1:p.Glu1233= | |
| ENST00000620121.4:c.3699G>A | ENSP00000481978.1:p.Glu1233= | |
| NM_015338.5:c.3699G>A , LRG_630t1:c.3699G>A | NP_056153.2:p.Glu1233= | |
| XM_006723727.2:c.3696G>A | XP_006723790.1:p.Glu1232= | |
| XM_006723728.2:c.3669G>A | XP_006723791.1:p.Glu1223= | |
| XM_006723730.2:c.3615G>A | XP_006723793.1:p.Glu1205= | |
| XM_006723732.2:c.3516G>A | XP_006723795.1:p.Glu1172= | |
| XM_006723733.1:c.3015G>A | XP_006723796.1:p.Glu1005= | |
| XM_011528647.1:c.3963G>A | XP_011526949.1:p.Glu1321= | |
| XM_011528648.1:c.3960G>A | XP_011526950.1:p.Glu1320= | |
| XM_011528649.1:c.3879G>A | XP_011526951.1:p.Glu1293= | |
| XM_011528650.1:c.3810G>A | XP_011526952.1:p.Glu1270= | |
| XM_011528651.1:c.3678G>A | XP_011526953.1:p.Glu1226= | |
| XM_011528652.1:c.3615G>A | XP_011526954.1:p.Glu1205= | |
| NM_001363734.1:c.3516G>A | NP_001350663.1:p.Glu1172= | |
| XM_006723727.3:c.3696G>A | XP_006723790.1:p.Glu1232= | |
| XM_006723728.3:c.3669G>A | XP_006723791.1:p.Glu1223= | |
| XM_006723730.4:c.3615G>A | XP_006723793.1:p.Glu1205= | |
| XM_011528648.3:c.3960G>A | XP_011526950.1:p.Glu1320= | |
| XM_011528652.2:c.3615G>A | XP_011526954.1:p.Glu1205= | |
| XM_017027704.1:c.3615G>A | XP_016883193.1:p.Glu1205= | |
| XM_017027705.1:c.3615G>A | XP_016883194.1:p.Glu1205= | |
| XM_017027706.1:c.3546G>A | XP_016883195.1:p.Glu1182= | |
| NM_015338.6:c.3699G>A MANE Select | NP_056153.2:p.Glu1233= |