Linked Data
dbSNP Id:
rs1321972184
gnomAD v2:
18-55833023-G-A
gnomAD v3:
18-58165791-G-A
gnomAD v4:
18-58165791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58165791G>A , CM000680.2:g.58165791G>A | GRCh38 |
| NC_000018.9:g.55833023G>A , CM000680.1:g.55833023G>A | GRCh37 |
| NC_000018.8:g.53984021G>A | NCBI36 |
| NG_029954.1:g.126414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.52G>A MANE Select | ENSP00000383199.2:p.Glu18Lys | |
| ENST00000585594.6:n.29G>A | ||
| ENST00000674613.1:n.98-79636G>A | ||
| ENST00000674845.1:c.*558G>A | ENSP00000502309.1:n.*558G>A | |
| ENST00000675137.1:n.174G>A | ||
| ENST00000675147.1:c.31G>A | ENSP00000501840.1:p.Glu11Lys | |
| ENST00000675227.1:c.98G>A | ENSP00000502649.1:p.Arg33Lys | |
| ENST00000675502.1:c.-312G>A | ENSP00000502428.1:n.-312G>A | |
| ENST00000675554.1:n.168G>A | ||
| ENST00000675801.1:c.-312G>A | ENSP00000502688.1:n.-312G>A | |
| ENST00000676024.1:c.52G>A | ENSP00000502105.1:p.Glu18Lys | |
| ENST00000676223.1:c.13G>A | ENSP00000502361.1:p.Glu5Lys | |
| ENST00000256830.13:c.52G>A | ENSP00000256830.8:p.Glu18Lys | |
| ENST00000356462.10:c.52G>A | ENSP00000348847.5:p.Glu18Lys | |
| ENST00000357895.9:c.28G>A | ENSP00000350569.4:p.Glu10Lys | |
| ENST00000382850.8:c.52G>A | ENSP00000372301.3:p.Glu18Lys | |
| ENST00000400345.7:c.52G>A | ENSP00000383199.2:p.Glu18Lys | |
| ENST00000435432.6:c.-390G>A | ENSP00000393395.1:n.-390G>A | |
| ENST00000456986.5:c.-312G>A | ENSP00000411947.1:n.-312G>A | |
| ENST00000585363.5:n.89G>A | ||
| ENST00000585594.5:n.172G>A | ||
| ENST00000586263.5:c.28G>A | ENSP00000468546.1:p.Glu10Lys | |
| ENST00000587547.1:n.841G>A | ||
| ENST00000588516.5:n.1152G>A | ||
| ENST00000589054.5:c.48+121083G>A | ENSP00000465669.1:n.48+121083G>A | |
| ENST00000590694.5:n.95G>A | ||
| ENST00000591579.5:n.96G>A | ||
| ENST00000591989.5:n.101-1G>A | ||
| ENST00000592846.5:c.-370-1G>A | ENSP00000466776.1:n.-370-1G>A | |
| NM_001144964.1:c.-312G>A | NP_001138436.1:n.-312G>A | |
| NM_001144965.1:c.-312G>A | NP_001138437.1:n.-312G>A | |
| NM_001144967.2:c.52G>A | NP_001138439.1:p.Glu18Lys | |
| NM_001144968.1:c.28G>A | NP_001138440.1:p.Glu10Lys | |
| NM_001144969.1:c.28G>A | NP_001138441.1:p.Glu10Lys | |
| NM_001144971.1:c.-390G>A | NP_001138443.1:n.-390G>A | |
| NM_001243960.1:c.52G>A | NP_001230889.1:p.Glu18Lys | |
| NM_015277.5:c.52G>A | NP_056092.2:p.Glu18Lys | |
| XM_006722426.2:c.52G>A | XP_006722489.1:p.Glu18Lys | |
| XM_006722428.2:c.52G>A | XP_006722491.1:p.Glu18Lys | |
| XM_011525887.1:c.28G>A | XP_011524189.1:p.Glu10Lys | |
| XM_006722426.4:c.52G>A | XP_006722489.1:p.Glu18Lys | |
| XM_006722428.4:c.52G>A | XP_006722491.1:p.Glu18Lys | |
| XM_011525887.3:c.28G>A | XP_011524189.1:p.Glu10Lys | |
| XM_017025678.2:c.52G>A | XP_016881167.1:p.Glu18Lys | |
| XM_024451129.1:c.-390G>A | XP_024306897.1:n.-390G>A | |
| XM_024451131.1:c.-312G>A | XP_024306899.1:n.-312G>A | |
| XM_024451134.1:c.-371G>A | XP_024306902.1:n.-371G>A | |
| XM_024451135.1:c.-312G>A | XP_024306903.1:n.-312G>A | |
| XM_024451136.1:c.-312G>A | XP_024306904.1:n.-312G>A | |
| XM_024451137.1:c.-390G>A | XP_024306905.1:n.-390G>A | |
| NM_001144967.3:c.52G>A MANE Select | NP_001138439.1:p.Glu18Lys | |
| NM_001144965.2:c.-312G>A | NP_001138437.1:n.-312G>A | |
| NM_001144968.2:c.28G>A | NP_001138440.1:p.Glu10Lys | |
| NM_001144969.2:c.28G>A | NP_001138441.1:p.Glu10Lys | |
| NM_001144971.2:c.-390G>A | NP_001138443.1:n.-390G>A | |
| NM_001243960.2:c.52G>A | NP_001230889.1:p.Glu18Lys | |
| NM_015277.6:c.52G>A | NP_056092.2:p.Glu18Lys |