Linked Data
ClinVar Variation Id:
1500817
ClinVar RCV Id:
RCV002042662
dbSNP Id:
rs1285793084
gnomAD v2:
3-48619786-C-G
gnomAD v3:
3-48582353-C-G
gnomAD v4:
3-48582353-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48582353C>G , CM000665.2:g.48582353C>G | GRCh38 |
| NC_000003.11:g.48619786C>G , CM000665.1:g.48619786C>G | GRCh37 |
| NC_000003.10:g.48594790C>G | NCBI36 |
| NG_007065.1:g.17900G>C , LRG_286:g.17900G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.4605G>C MANE Select | ENSP00000506558.1:p.Glu1535Asp | |
| ENST00000328333.12:c.4605G>C | ENSP00000332371.8:p.Glu1535Asp | |
| ENST00000487017.5:n.522G>C | ||
| NM_000094.3:c.4605G>C , LRG_286t1:c.4605G>C | NP_000085.1:p.Glu1535Asp | |
| XM_011533336.1:c.4632G>C | XP_011531638.1:p.Glu1544Asp | |
| XM_011533337.1:c.4605G>C | XP_011531639.1:p.Glu1535Asp | |
| XM_011533338.1:c.4632G>C | XP_011531640.1:p.Glu1544Asp | |
| XM_011533339.1:c.4632G>C | XP_011531641.1:p.Glu1544Asp | |
| XM_011533340.1:c.4632G>C | XP_011531642.1:p.Glu1544Asp | |
| XM_011533341.1:c.4632G>C | XP_011531643.1:p.Glu1544Asp | |
| XM_011533342.1:c.4632G>C | XP_011531644.1:p.Glu1544Asp | |
| XR_940369.1:n.4668G>C | ||
| XR_940370.1:n.4668G>C | ||
| XR_940371.1:n.4668G>C | ||
| XR_940372.1:n.4668G>C | ||
| XR_940373.1:n.4668G>C | ||
| XR_940374.1:n.4668G>C | ||
| XR_940375.1:n.4668G>C | ||
| XM_017005688.1:c.4605G>C | XP_016861177.1:p.Glu1535Asp | |
| XM_017005689.1:c.4605G>C | XP_016861178.1:p.Glu1535Asp | |
| XM_017005690.1:c.4605G>C | XP_016861179.1:p.Glu1535Asp | |
| XM_017005691.1:c.4605G>C | XP_016861180.1:p.Glu1535Asp | |
| XM_017005692.1:c.4605G>C | XP_016861181.1:p.Glu1535Asp | |
| XR_001740003.1:n.4641G>C | ||
| XR_001740004.1:n.4641G>C | ||
| XR_001740005.1:n.4641G>C | ||
| XR_001740006.1:n.4641G>C | ||
| XR_001740007.1:n.4641G>C | ||
| XR_001740008.1:n.4641G>C | ||
| XR_001740009.1:n.4641G>C | ||
| NM_000094.4:c.4605G>C MANE Select | NP_000085.1:p.Glu1535Asp |