Linked Data
ClinVar Variation Id:
35866
ClinVar RCV Id:
RCV000046825
RCV000660859
RCV001004301
RCV000724647
RCV001009383
RCV001642236
RCV002228060
RCV003473141
dbSNP Id:
rs78769542
ExAC:
7:117251704 G / A
gnomAD v2:
7-117251704-G-A
gnomAD v3:
7-117611650-G-A
gnomAD v4:
7-117611650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611650G>A , CM000669.2:g.117611650G>A | GRCh38 |
| NC_000007.13:g.117251704G>A , CM000669.1:g.117251704G>A | GRCh37 |
| NC_000007.12:g.117038940G>A | NCBI36 |
| NG_016465.4:g.150867G>A , LRG_663:g.150867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3209G>A | ENSP00000497673.2:p.Arg1070Gln | |
| ENST00000647978.2:c.*2923G>A | ENSP00000497658.1:n.*2923G>A | |
| ENST00000649781.2:c.3026G>A | ENSP00000497203.1:p.Arg1009Gln | |
| ENST00000685018.2:c.3209G>A | ENSP00000510194.2:p.Arg1070Gln | |
| ENST00000687278.2:c.3209G>A | ENSP00000509593.2:p.Arg1070Gln | |
| ENST00000699585.1:c.3209G>A | ENSP00000514456.1:p.Arg1070Gln | |
| ENST00000699598.1:c.3209G>A | ENSP00000514467.1:p.Arg1070Gln | |
| ENST00000699599.1:c.3209G>A | ENSP00000514468.1:p.Arg1070Gln | |
| ENST00000699600.1:c.3209G>A | ENSP00000514469.1:p.Arg1070Gln | |
| ENST00000699601.1:c.*1509G>A | ENSP00000514470.1:n.*1509G>A | |
| ENST00000699602.1:c.3209G>A | ENSP00000514471.1:p.Arg1070Gln | |
| ENST00000699604.1:c.*3033G>A | ENSP00000514472.1:n.*3033G>A | |
| ENST00000699605.1:c.2783G>A | ENSP00000514473.1:p.Arg928Gln | |
| ENST00000687278.1:c.800G>A | ENSP00000509593.1:p.Arg267Gln | |
| ENST00000003084.11:c.3209G>A MANE Select | ENSP00000003084.6:p.Arg1070Gln | |
| ENST00000647720.1:c.859G>A | ||
| ENST00000648260.1:c.1991G>A | ENSP00000497957.1:p.Arg664Gln | |
| ENST00000649406.1:c.3026G>A | ENSP00000497965.1:p.Arg1009Gln | |
| ENST00000649781.1:c.3026G>A | ENSP00000497203.1:p.Arg1009Gln | |
| ENST00000003084.10:c.3209G>A | ENSP00000003084.6:p.Arg1070Gln | |
| ENST00000426809.5:c.3119G>A | ENSP00000389119.1:p.Arg1040Gln | |
| ENST00000468795.1:c.34G>A | ||
| NM_000492.3:c.3209G>A , LRG_663t1:c.3209G>A | NP_000483.3:p.Arg1070Gln | |
| XM_011515751.1:c.3299G>A | XP_011514053.1:p.Arg1100Gln | |
| XM_011515752.1:c.3299G>A | XP_011514054.1:p.Arg1100Gln | |
| XM_011515753.1:c.2966G>A | XP_011514055.1:p.Arg989Gln | |
| XM_011515754.1:c.2966G>A | XP_011514056.1:p.Arg989Gln | |
| NM_000492.4:c.3209G>A MANE Select | NP_000483.3:p.Arg1070Gln |