Linked Data
ClinVar Variation Id:
35833
ClinVar RCV Id:
RCV000046498
RCV000506455
RCV001009381
RCV001004277
RCV000763577
RCV001588828
RCV002228058
RCV002256004
RCV003473129
dbSNP Id:
rs121908759
ExAC:
7:117232086 G / A
gnomAD v2:
7-117232086-G-A
gnomAD v3:
7-117592032-G-A
gnomAD v4:
7-117592032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592032G>A , CM000669.2:g.117592032G>A | GRCh38 |
| NC_000007.13:g.117232086G>A , CM000669.1:g.117232086G>A | GRCh37 |
| NC_000007.12:g.117019322G>A | NCBI36 |
| NG_016465.4:g.131249G>A , LRG_663:g.131249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1865G>A | ENSP00000497673.2:p.Gly622Asp | |
| ENST00000647978.2:c.*1579G>A | ENSP00000497658.1:n.*1579G>A | |
| ENST00000649781.2:c.1682G>A | ENSP00000497203.1:p.Gly561Asp | |
| ENST00000685018.2:c.1865G>A | ENSP00000510194.2:p.Gly622Asp | |
| ENST00000687278.2:c.1865G>A | ENSP00000509593.2:p.Gly622Asp | |
| ENST00000699585.1:c.1865G>A | ENSP00000514456.1:p.Gly622Asp | |
| ENST00000699598.1:c.1865G>A | ENSP00000514467.1:p.Gly622Asp | |
| ENST00000699599.1:c.1865G>A | ENSP00000514468.1:p.Gly622Asp | |
| ENST00000699600.1:c.1865G>A | ENSP00000514469.1:p.Gly622Asp | |
| ENST00000699601.1:c.*165G>A | ENSP00000514470.1:n.*165G>A | |
| ENST00000699602.1:c.1865G>A | ENSP00000514471.1:p.Gly622Asp | |
| ENST00000699604.1:c.*1689G>A | ENSP00000514472.1:n.*1689G>A | |
| ENST00000699605.1:c.1439G>A | ENSP00000514473.1:p.Gly480Asp | |
| ENST00000003084.11:c.1865G>A MANE Select | ENSP00000003084.6:p.Gly622Asp | |
| ENST00000647978.1:c.*1579G>A | ENSP00000497658.1:n.*1579G>A | |
| ENST00000648260.1:c.1402-10794G>A | ENSP00000497957.1:n.1402-10794G>A | |
| ENST00000649406.1:c.1682G>A | ENSP00000497965.1:p.Gly561Asp | |
| ENST00000649781.1:c.1682G>A | ENSP00000497203.1:p.Gly561Asp | |
| ENST00000003084.10:c.1865G>A | ENSP00000003084.6:p.Gly622Asp | |
| ENST00000426809.5:c.1775G>A | ENSP00000389119.1:p.Gly592Asp | |
| NM_000492.3:c.1865G>A , LRG_663t1:c.1865G>A | NP_000483.3:p.Gly622Asp | |
| XM_011515751.1:c.1955G>A | XP_011514053.1:p.Gly652Asp | |
| XM_011515752.1:c.1955G>A | XP_011514054.1:p.Gly652Asp | |
| XM_011515753.1:c.1622G>A | XP_011514055.1:p.Gly541Asp | |
| XM_011515754.1:c.1622G>A | XP_011514056.1:p.Gly541Asp | |
| NM_000492.4:c.1865G>A MANE Select | NP_000483.3:p.Gly622Asp |