Linked Data
ClinVar Variation Id:
53918
ClinVar RCV Id:
RCV000577736
dbSNP Id:
rs397508696
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665523G>A , CM000669.2:g.117665523G>A | GRCh38 |
| NC_000007.13:g.117305577G>A , CM000669.1:g.117305577G>A | GRCh37 |
| NC_000007.12:g.117092813G>A | NCBI36 |
| NG_016465.4:g.204740G>A , LRG_663:g.204740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*410G>A | ENSP00000497673.2:n.*410G>A | |
| ENST00000647978.2:c.*3915G>A | ENSP00000497658.1:n.*3915G>A | |
| ENST00000649781.2:c.4018G>A | ENSP00000497203.1:p.Glu1340Lys | |
| ENST00000685018.2:c.*414G>A | ENSP00000510194.2:n.*414G>A | |
| ENST00000687278.2:c.*854G>A | ENSP00000509593.2:n.*854G>A | |
| ENST00000699585.1:c.*410G>A | ENSP00000514456.1:n.*410G>A | |
| ENST00000699598.1:c.4201G>A | ENSP00000514467.1:p.Glu1401Lys | |
| ENST00000699599.1:c.*414G>A | ENSP00000514468.1:n.*414G>A | |
| ENST00000699600.1:c.*862G>A | ENSP00000514469.1:n.*862G>A | |
| ENST00000699601.1:c.*2576G>A | ENSP00000514470.1:n.*2576G>A | |
| ENST00000699602.1:c.4195G>A | ENSP00000514471.1:p.Glu1399Lys | |
| ENST00000699604.1:c.*4025G>A | ENSP00000514472.1:n.*4025G>A | |
| ENST00000699605.1:c.3775G>A | ENSP00000514473.1:p.Glu1259Lys | |
| ENST00000699606.1:n.2369G>A | ||
| ENST00000685018.1:c.1065G>A | ENSP00000510194.1:n.1065G>A | |
| ENST00000687278.1:c.1988G>A | ENSP00000509593.1:n.1988G>A | |
| ENST00000689011.1:c.783G>A | ||
| ENST00000003084.11:c.4201G>A MANE Select | ENSP00000003084.6:p.Glu1401Lys | |
| ENST00000647720.1:c.1651G>A | ||
| ENST00000649781.1:c.4018G>A | ENSP00000497203.1:p.Glu1340Lys | |
| ENST00000003084.10:c.4201G>A | ENSP00000003084.6:p.Glu1401Lys | |
| ENST00000426809.5:c.4111G>A | ENSP00000389119.1:p.Glu1371Lys | |
| ENST00000600166.1:c.327G>A | ||
| NM_000492.3:c.4201G>A , LRG_663t1:c.4201G>A | NP_000483.3:p.Glu1401Lys | |
| XM_011515751.1:c.4291G>A | XP_011514053.1:p.Glu1431Lys | |
| XM_011515752.1:c.4291G>A | XP_011514054.1:p.Glu1431Lys | |
| XM_011515753.1:c.3958G>A | XP_011514055.1:p.Glu1320Lys | |
| XM_011515754.1:c.3958G>A | XP_011514056.1:p.Glu1320Lys | |
| NM_000492.4:c.4201G>A MANE Select | NP_000483.3:p.Glu1401Lys |