Linked Data
ClinVar Variation Id:
595171
ClinVar RCV Id:
RCV000730651
dbSNP Id:
rs1562911610
COSMIC:
COSM4967233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603646C>A , CM000669.2:g.117603646C>A | GRCh38 |
| NC_000007.13:g.117243700C>A , CM000669.1:g.117243700C>A | GRCh37 |
| NC_000007.12:g.117030936C>A | NCBI36 |
| NG_016465.4:g.142863C>A , LRG_663:g.142863C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2772C>A | ENSP00000497673.2:p.Asp924Glu | |
| ENST00000647978.2:c.*2486C>A | ENSP00000497658.1:n.*2486C>A | |
| ENST00000649781.2:c.2589C>A | ENSP00000497203.1:p.Asp863Glu | |
| ENST00000685018.2:c.2772C>A | ENSP00000510194.2:p.Asp924Glu | |
| ENST00000687278.2:c.2772C>A | ENSP00000509593.2:p.Asp924Glu | |
| ENST00000699585.1:c.2772C>A | ENSP00000514456.1:p.Asp924Glu | |
| ENST00000699598.1:c.2772C>A | ENSP00000514467.1:p.Asp924Glu | |
| ENST00000699599.1:c.2772C>A | ENSP00000514468.1:p.Asp924Glu | |
| ENST00000699600.1:c.2772C>A | ENSP00000514469.1:p.Asp924Glu | |
| ENST00000699601.1:c.*1072C>A | ENSP00000514470.1:n.*1072C>A | |
| ENST00000699602.1:c.2772C>A | ENSP00000514471.1:p.Asp924Glu | |
| ENST00000699604.1:c.*2596C>A | ENSP00000514472.1:n.*2596C>A | |
| ENST00000699605.1:c.2346C>A | ENSP00000514473.1:p.Asp782Glu | |
| ENST00000687278.1:c.363C>A | ENSP00000509593.1:p.Asp121Glu | |
| ENST00000003084.11:c.2772C>A MANE Select | ENSP00000003084.6:p.Asp924Glu | |
| ENST00000647720.1:c.422C>A | ||
| ENST00000648260.1:c.1554C>A | ENSP00000497957.1:p.Asp518Glu | |
| ENST00000649406.1:c.2589C>A | ENSP00000497965.1:p.Asp863Glu | |
| ENST00000649781.1:c.2589C>A | ENSP00000497203.1:p.Asp863Glu | |
| ENST00000003084.10:c.2772C>A | ENSP00000003084.6:p.Asp924Glu | |
| ENST00000426809.5:c.2682C>A | ENSP00000389119.1:p.Asp894Glu | |
| NM_000492.3:c.2772C>A , LRG_663t1:c.2772C>A | NP_000483.3:p.Asp924Glu | |
| XM_011515751.1:c.2862C>A | XP_011514053.1:p.Asp954Glu | |
| XM_011515752.1:c.2862C>A | XP_011514054.1:p.Asp954Glu | |
| XM_011515753.1:c.2529C>A | XP_011514055.1:p.Asp843Glu | |
| XM_011515754.1:c.2529C>A | XP_011514056.1:p.Asp843Glu | |
| NM_000492.4:c.2772C>A MANE Select | NP_000483.3:p.Asp924Glu |