Linked Data
dbSNP Id:
rs2087543796
gnomAD v3:
20-3671677-T-C
gnomAD v4:
20-3671677-T-C
MyVariant Identifiers:
chr20:g.3652324T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671677T>C , CM000682.2:g.3671677T>C | GRCh38 |
| NC_000020.10:g.3652324T>C , CM000682.1:g.3652324T>C | GRCh37 |
| NC_000020.9:g.3600324T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1809A>G MANE Select | ENSP00000348912.3:p.Glu603= | |
| ENST00000350009.6:c.1809A>G | ENSP00000322550.5:p.Glu603= | |
| ENST00000356518.6:c.1809A>G | ENSP00000348912.2:p.Glu603= | |
| ENST00000379861.8:c.1809A>G | ENSP00000369190.4:p.Glu603= | |
| ENST00000466620.5:n.1448A>G | ||
| ENST00000617732.1:c.*632-220A>G | ENSP00000483343.1:n.*632-220A>G | |
| ENST00000619289.4:c.1449A>G | ENSP00000484600.1:p.Glu483= | |
| NM_001282447.1:c.1809A>G | NP_001269376.1:p.Glu603= | |
| NM_025220.3:c.1809A>G | NP_079496.1:p.Glu603= | |
| NM_153202.2:c.1809A>G | NP_694882.1:p.Glu603= | |
| XM_005260843.1:c.1848A>G | XP_005260900.1:p.Glu616= | |
| XM_006723639.1:c.1848A>G | XP_006723702.1:p.Glu616= | |
| XM_006723640.1:c.1839A>G | XP_006723703.1:p.Glu613= | |
| XM_011529366.1:c.1845A>G | XP_011527668.1:p.Glu615= | |
| XM_011529367.1:c.1806A>G | XP_011527669.1:p.Glu602= | |
| XM_011529368.1:c.1848A>G | XP_011527670.1:p.Glu616= | |
| XM_011529369.1:c.1816A>G | XP_011527671.1:p.Ser606Gly | |
| XM_011529370.1:c.1816A>G | XP_011527672.1:p.Ser606Gly | |
| XM_011529373.1:c.846A>G | XP_011527675.1:p.Glu282= | |
| XR_937151.1:n.1952A>G | ||
| XR_937152.1:n.1952A>G | ||
| XR_937153.1:n.1833A>G | ||
| XR_937154.1:n.1833A>G | ||
| XR_937155.1:n.1754A>G | ||
| XR_937157.1:n.1756A>G | ||
| NM_001282447.2:c.1809A>G | NP_001269376.1:p.Glu603= | |
| NM_025220.4:c.1809A>G | NP_079496.1:p.Glu603= | |
| NM_153202.3:c.1809A>G | NP_694882.1:p.Glu603= | |
| XM_011529373.2:c.846A>G | XP_011527675.1:p.Glu282= | |
| XR_001754405.1:n.1920A>G | ||
| XR_002958534.1:n.2029A>G | ||
| NM_001282447.3:c.1809A>G | NP_001269376.1:p.Glu603= | |
| NM_025220.5:c.1809A>G MANE Select | NP_079496.1:p.Glu603= | |
| NM_153202.4:c.1809A>G | NP_694882.1:p.Glu603= |