Linked Data
ClinVar Variation Id:
53923
dbSNP Id:
rs397508699
ExAC:
7:117305601 G / A
gnomAD v2:
7-117305601-G-A
gnomAD v3:
7-117665547-G-A
gnomAD v4:
7-117665547-G-A
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665547G>A , CM000669.2:g.117665547G>A | GRCh38 |
| NC_000007.13:g.117305601G>A , CM000669.1:g.117305601G>A | GRCh37 |
| NC_000007.12:g.117092837G>A | NCBI36 |
| NG_016465.4:g.204764G>A , LRG_663:g.204764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*434G>A | ENSP00000497673.2:n.*434G>A | |
| ENST00000647978.2:c.*3939G>A | ENSP00000497658.1:n.*3939G>A | |
| ENST00000649781.2:c.4042G>A | ENSP00000497203.1:p.Glu1348Lys | |
| ENST00000685018.2:c.*438G>A | ENSP00000510194.2:n.*438G>A | |
| ENST00000687278.2:c.*878G>A | ENSP00000509593.2:n.*878G>A | |
| ENST00000699585.1:c.*434G>A | ENSP00000514456.1:n.*434G>A | |
| ENST00000699598.1:c.4225G>A | ENSP00000514467.1:p.Glu1409Lys | |
| ENST00000699599.1:c.*438G>A | ENSP00000514468.1:n.*438G>A | |
| ENST00000699600.1:c.*886G>A | ENSP00000514469.1:n.*886G>A | |
| ENST00000699601.1:c.*2600G>A | ENSP00000514470.1:n.*2600G>A | |
| ENST00000699602.1:c.4219G>A | ENSP00000514471.1:p.Glu1407Lys | |
| ENST00000699604.1:c.*4049G>A | ENSP00000514472.1:n.*4049G>A | |
| ENST00000699605.1:c.3799G>A | ENSP00000514473.1:p.Glu1267Lys | |
| ENST00000699606.1:n.2393G>A | ||
| ENST00000685018.1:c.1089G>A | ENSP00000510194.1:n.1089G>A | |
| ENST00000687278.1:c.2012G>A | ENSP00000509593.1:n.2012G>A | |
| ENST00000689011.1:c.807G>A | ||
| ENST00000003084.11:c.4225G>A MANE Select | ENSP00000003084.6:p.Glu1409Lys | |
| ENST00000647720.1:c.1675G>A | ||
| ENST00000649781.1:c.4042G>A | ENSP00000497203.1:p.Glu1348Lys | |
| ENST00000003084.10:c.4225G>A | ENSP00000003084.6:p.Glu1409Lys | |
| ENST00000426809.5:c.4135G>A | ENSP00000389119.1:p.Glu1379Lys | |
| ENST00000600166.1:c.351G>A | ||
| NM_000492.3:c.4225G>A , LRG_663t1:c.4225G>A | NP_000483.3:p.Glu1409Lys | |
| XM_011515751.1:c.4315G>A | XP_011514053.1:p.Glu1439Lys | |
| XM_011515752.1:c.4315G>A | XP_011514054.1:p.Glu1439Lys | |
| XM_011515753.1:c.3982G>A | XP_011514055.1:p.Glu1328Lys | |
| XM_011515754.1:c.3982G>A | XP_011514056.1:p.Glu1328Lys | |
| NM_000492.4:c.4225G>A MANE Select | NP_000483.3:p.Glu1409Lys |