Linked Data
ClinVar Variation Id:
3143844
ClinVar RCV Id:
RCV004436650
dbSNP Id:
rs1259091056
gnomAD v2:
7-117232243-T-A
gnomAD v3:
7-117592189-T-A
gnomAD v4:
7-117592189-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592189T>A , CM000669.2:g.117592189T>A | GRCh38 |
| NC_000007.13:g.117232243T>A , CM000669.1:g.117232243T>A | GRCh37 |
| NC_000007.12:g.117019479T>A | NCBI36 |
| NG_016465.4:g.131406T>A , LRG_663:g.131406T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2022T>A | ENSP00000497673.2:p.Asp674Glu | |
| ENST00000647978.2:c.*1736T>A | ENSP00000497658.1:n.*1736T>A | |
| ENST00000649781.2:c.1839T>A | ENSP00000497203.1:p.Asp613Glu | |
| ENST00000685018.2:c.2022T>A | ENSP00000510194.2:p.Asp674Glu | |
| ENST00000687278.2:c.2022T>A | ENSP00000509593.2:p.Asp674Glu | |
| ENST00000699585.1:c.2022T>A | ENSP00000514456.1:p.Asp674Glu | |
| ENST00000699598.1:c.2022T>A | ENSP00000514467.1:p.Asp674Glu | |
| ENST00000699599.1:c.2022T>A | ENSP00000514468.1:p.Asp674Glu | |
| ENST00000699600.1:c.2022T>A | ENSP00000514469.1:p.Asp674Glu | |
| ENST00000699601.1:c.*322T>A | ENSP00000514470.1:n.*322T>A | |
| ENST00000699602.1:c.2022T>A | ENSP00000514471.1:p.Asp674Glu | |
| ENST00000699604.1:c.*1846T>A | ENSP00000514472.1:n.*1846T>A | |
| ENST00000699605.1:c.1596T>A | ENSP00000514473.1:p.Asp532Glu | |
| ENST00000003084.11:c.2022T>A MANE Select | ENSP00000003084.6:p.Asp674Glu | |
| ENST00000647978.1:c.*1736T>A | ENSP00000497658.1:n.*1736T>A | |
| ENST00000648260.1:c.1402-10637T>A | ENSP00000497957.1:n.1402-10637T>A | |
| ENST00000649406.1:c.1839T>A | ENSP00000497965.1:p.Asp613Glu | |
| ENST00000649781.1:c.1839T>A | ENSP00000497203.1:p.Asp613Glu | |
| ENST00000003084.10:c.2022T>A | ENSP00000003084.6:p.Asp674Glu | |
| ENST00000426809.5:c.1932T>A | ENSP00000389119.1:p.Asp644Glu | |
| NM_000492.3:c.2022T>A , LRG_663t1:c.2022T>A | NP_000483.3:p.Asp674Glu | |
| XM_011515751.1:c.2112T>A | XP_011514053.1:p.Asp704Glu | |
| XM_011515752.1:c.2112T>A | XP_011514054.1:p.Asp704Glu | |
| XM_011515753.1:c.1779T>A | XP_011514055.1:p.Asp593Glu | |
| XM_011515754.1:c.1779T>A | XP_011514056.1:p.Asp593Glu | |
| NM_000492.4:c.2022T>A MANE Select | NP_000483.3:p.Asp674Glu |