Linked Data
ClinVar Variation Id:
1730743
ClinVar RCV Id:
RCV002451752
gnomAD v4:
7-117614617-A-G
MyVariant Identifiers:
chr7:g.117254671A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614617A>G , CM000669.2:g.117614617A>G | GRCh38 |
| NC_000007.13:g.117254671A>G , CM000669.1:g.117254671A>G | GRCh37 |
| NC_000007.12:g.117041907A>G | NCBI36 |
| NG_016465.4:g.153834A>G , LRG_663:g.153834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3372A>G | ENSP00000497673.2:p.Glu1124= | |
| ENST00000647978.2:c.*3086A>G | ENSP00000497658.1:n.*3086A>G | |
| ENST00000649781.2:c.3189A>G | ENSP00000497203.1:p.Glu1063= | |
| ENST00000685018.2:c.3372A>G | ENSP00000510194.2:p.Glu1124= | |
| ENST00000687278.2:c.3372A>G | ENSP00000509593.2:p.Glu1124= | |
| ENST00000699585.1:c.3372A>G | ENSP00000514456.1:p.Glu1124= | |
| ENST00000699598.1:c.3372A>G | ENSP00000514467.1:p.Glu1124= | |
| ENST00000699599.1:c.3372A>G | ENSP00000514468.1:p.Glu1124= | |
| ENST00000699600.1:c.3372A>G | ENSP00000514469.1:p.Glu1124= | |
| ENST00000699601.1:c.*1747A>G | ENSP00000514470.1:n.*1747A>G | |
| ENST00000699602.1:c.3368-2A>G | ENSP00000514471.1:n.3368-2A>G | |
| ENST00000699604.1:c.*3196A>G | ENSP00000514472.1:n.*3196A>G | |
| ENST00000699605.1:c.2946A>G | ENSP00000514473.1:p.Glu982= | |
| ENST00000685018.1:c.120A>G | ENSP00000510194.1:p.Glu40= | |
| ENST00000687278.1:c.963A>G | ENSP00000509593.1:p.Glu321= | |
| ENST00000003084.11:c.3372A>G MANE Select | ENSP00000003084.6:p.Glu1124= | |
| ENST00000647720.1:c.1022A>G | ||
| ENST00000648260.1:c.2154A>G | ENSP00000497957.1:p.Glu718= | |
| ENST00000649406.1:c.3189A>G | ENSP00000497965.1:p.Glu1063= | |
| ENST00000649781.1:c.3189A>G | ENSP00000497203.1:p.Glu1063= | |
| ENST00000003084.10:c.3372A>G | ENSP00000003084.6:p.Glu1124= | |
| ENST00000426809.5:c.3282A>G | ENSP00000389119.1:p.Glu1094= | |
| ENST00000468795.1:c.197A>G | ||
| NM_000492.3:c.3372A>G , LRG_663t1:c.3372A>G | NP_000483.3:p.Glu1124= | |
| XM_011515751.1:c.3462A>G | XP_011514053.1:p.Glu1154= | |
| XM_011515752.1:c.3462A>G | XP_011514054.1:p.Glu1154= | |
| XM_011515753.1:c.3129A>G | XP_011514055.1:p.Glu1043= | |
| XM_011515754.1:c.3129A>G | XP_011514056.1:p.Glu1043= | |
| NM_000492.4:c.3372A>G MANE Select | NP_000483.3:p.Glu1124= |