Linked Data
ClinVar Variation Id:
2624951
ClinVar RCV Id:
RCV003377630
dbSNP Id:
rs1288541622
gnomAD v4:
7-117664802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664802G>A , CM000669.2:g.117664802G>A | GRCh38 |
| NC_000007.13:g.117304856G>A , CM000669.1:g.117304856G>A | GRCh37 |
| NC_000007.12:g.117092092G>A | NCBI36 |
| NG_016465.4:g.204019G>A , LRG_663:g.204019G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*287G>A | ENSP00000497673.2:n.*287G>A | |
| ENST00000647978.2:c.*3792G>A | ENSP00000497658.1:n.*3792G>A | |
| ENST00000649781.2:c.3895G>A | ENSP00000497203.1:p.Val1299Ile | |
| ENST00000685018.2:c.*291G>A | ENSP00000510194.2:n.*291G>A | |
| ENST00000687278.2:c.*731G>A | ENSP00000509593.2:n.*731G>A | |
| ENST00000699585.1:c.*287G>A | ENSP00000514456.1:n.*287G>A | |
| ENST00000699598.1:c.4078G>A | ENSP00000514467.1:p.Val1360Ile | |
| ENST00000699599.1:c.*291G>A | ENSP00000514468.1:n.*291G>A | |
| ENST00000699600.1:c.*739G>A | ENSP00000514469.1:n.*739G>A | |
| ENST00000699601.1:c.*2453G>A | ENSP00000514470.1:n.*2453G>A | |
| ENST00000699602.1:c.4072G>A | ENSP00000514471.1:p.Val1358Ile | |
| ENST00000699604.1:c.*3902G>A | ENSP00000514472.1:n.*3902G>A | |
| ENST00000699605.1:c.3652G>A | ENSP00000514473.1:p.Val1218Ile | |
| ENST00000699606.1:n.2246G>A | ||
| ENST00000685018.1:c.942G>A | ENSP00000510194.1:n.942G>A | |
| ENST00000687278.1:c.1865G>A | ENSP00000509593.1:n.1865G>A | |
| ENST00000689011.1:c.660G>A | ||
| ENST00000003084.11:c.4078G>A MANE Select | ENSP00000003084.6:p.Val1360Ile | |
| ENST00000647720.1:c.1528G>A | ||
| ENST00000649781.1:c.3895G>A | ENSP00000497203.1:p.Val1299Ile | |
| ENST00000003084.10:c.4078G>A | ENSP00000003084.6:p.Val1360Ile | |
| ENST00000426809.5:c.3988G>A | ENSP00000389119.1:p.Val1330Ile | |
| ENST00000600166.1:c.204G>A | ||
| NM_000492.3:c.4078G>A , LRG_663t1:c.4078G>A | NP_000483.3:p.Val1360Ile | |
| XM_011515751.1:c.4168G>A | XP_011514053.1:p.Val1390Ile | |
| XM_011515752.1:c.4168G>A | XP_011514054.1:p.Val1390Ile | |
| XM_011515753.1:c.3835G>A | XP_011514055.1:p.Val1279Ile | |
| XM_011515754.1:c.3835G>A | XP_011514056.1:p.Val1279Ile | |
| NM_000492.4:c.4078G>A MANE Select | NP_000483.3:p.Val1360Ile |