Linked Data
ClinVar Variation Id:
1778121
ClinVar RCV Id:
RCV002406149
dbSNP Id:
rs371291116
ExAC:
7:117230417 A / G
gnomAD v2:
7-117230417-A-G
gnomAD v4:
7-117590363-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117590363A>G , CM000669.2:g.117590363A>G | GRCh38 |
| NC_000007.13:g.117230417A>G , CM000669.1:g.117230417A>G | GRCh37 |
| NC_000007.12:g.117017653A>G | NCBI36 |
| NG_016465.4:g.129580A>G , LRG_663:g.129580A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1690A>G | ENSP00000497673.2:p.Lys564Glu | |
| ENST00000647978.2:c.*1404A>G | ENSP00000497658.1:n.*1404A>G | |
| ENST00000649781.2:c.1507A>G | ENSP00000497203.1:p.Lys503Glu | |
| ENST00000685018.2:c.1690A>G | ENSP00000510194.2:p.Lys564Glu | |
| ENST00000687278.2:c.1690A>G | ENSP00000509593.2:p.Lys564Glu | |
| ENST00000699585.1:c.1690A>G | ENSP00000514456.1:p.Lys564Glu | |
| ENST00000699598.1:c.1690A>G | ENSP00000514467.1:p.Lys564Glu | |
| ENST00000699599.1:c.1690A>G | ENSP00000514468.1:p.Lys564Glu | |
| ENST00000699600.1:c.1690A>G | ENSP00000514469.1:p.Lys564Glu | |
| ENST00000699601.1:c.1685A>G | ENSP00000514470.1:p.Gln562Arg | |
| ENST00000699602.1:c.1690A>G | ENSP00000514471.1:p.Lys564Glu | |
| ENST00000699604.1:c.*1514A>G | ENSP00000514472.1:n.*1514A>G | |
| ENST00000699605.1:c.1264A>G | ENSP00000514473.1:p.Lys422Glu | |
| ENST00000003084.11:c.1690A>G MANE Select | ENSP00000003084.6:p.Lys564Glu | |
| ENST00000647978.1:c.*1404A>G | ENSP00000497658.1:n.*1404A>G | |
| ENST00000648260.1:c.1402-12463A>G | ENSP00000497957.1:n.1402-12463A>G | |
| ENST00000649406.1:c.1507A>G | ENSP00000497965.1:p.Lys503Glu | |
| ENST00000649781.1:c.1507A>G | ENSP00000497203.1:p.Lys503Glu | |
| ENST00000003084.10:c.1690A>G | ENSP00000003084.6:p.Lys564Glu | |
| ENST00000426809.5:c.1600A>G | ENSP00000389119.1:p.Lys534Glu | |
| NM_000492.3:c.1690A>G , LRG_663t1:c.1690A>G | NP_000483.3:p.Lys564Glu | |
| XM_011515751.1:c.1780A>G | XP_011514053.1:p.Lys594Glu | |
| XM_011515752.1:c.1780A>G | XP_011514054.1:p.Lys594Glu | |
| XM_011515753.1:c.1447A>G | XP_011514055.1:p.Lys483Glu | |
| XM_011515754.1:c.1447A>G | XP_011514056.1:p.Lys483Glu | |
| NM_000492.4:c.1690A>G MANE Select | NP_000483.3:p.Lys564Glu |