Linked Data
ClinVar Variation Id:
1735323
ClinVar RCV Id:
RCV002355379
dbSNP Id:
rs1349344071
gnomAD v2:
7-117282603-A-G
gnomAD v3:
7-117642549-A-G
gnomAD v4:
7-117642549-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642549A>G , CM000669.2:g.117642549A>G | GRCh38 |
| NC_000007.13:g.117282603A>G , CM000669.1:g.117282603A>G | GRCh37 |
| NC_000007.12:g.117069839A>G | NCBI36 |
| NG_016465.4:g.181766A>G , LRG_663:g.181766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*38A>G | ENSP00000497673.2:n.*38A>G | |
| ENST00000647978.2:c.*3543A>G | ENSP00000497658.1:n.*3543A>G | |
| ENST00000649781.2:c.3646A>G | ENSP00000497203.1:p.Ile1216Val | |
| ENST00000685018.2:c.3829A>G | ENSP00000510194.2:p.Ile1277Val | |
| ENST00000687278.2:c.*482A>G | ENSP00000509593.2:n.*482A>G | |
| ENST00000699585.1:c.*38A>G | ENSP00000514456.1:n.*38A>G | |
| ENST00000699598.1:c.3829A>G | ENSP00000514467.1:p.Ile1277Val | |
| ENST00000699599.1:c.3829A>G | ENSP00000514468.1:p.Ile1277Val | |
| ENST00000699600.1:c.*490A>G | ENSP00000514469.1:n.*490A>G | |
| ENST00000699601.1:c.*2204A>G | ENSP00000514470.1:n.*2204A>G | |
| ENST00000699602.1:c.3823A>G | ENSP00000514471.1:p.Ile1275Val | |
| ENST00000699604.1:c.*3653A>G | ENSP00000514472.1:n.*3653A>G | |
| ENST00000699605.1:c.3403A>G | ENSP00000514473.1:p.Ile1135Val | |
| ENST00000685018.1:c.577A>G | ENSP00000510194.1:p.Ile193Val | |
| ENST00000687278.1:c.1616A>G | ENSP00000509593.1:n.1616A>G | |
| ENST00000689011.1:c.411A>G | ||
| ENST00000003084.11:c.3829A>G MANE Select | ENSP00000003084.6:p.Ile1277Val | |
| ENST00000647720.1:c.1279A>G | ||
| ENST00000649781.1:c.3646A>G | ENSP00000497203.1:p.Ile1216Val | |
| ENST00000003084.10:c.3829A>G | ENSP00000003084.6:p.Ile1277Val | |
| ENST00000426809.5:c.3739A>G | ENSP00000389119.1:p.Ile1247Val | |
| NM_000492.3:c.3829A>G , LRG_663t1:c.3829A>G | NP_000483.3:p.Ile1277Val | |
| XM_011515751.1:c.3919A>G | XP_011514053.1:p.Ile1307Val | |
| XM_011515752.1:c.3919A>G | XP_011514054.1:p.Ile1307Val | |
| XM_011515753.1:c.3586A>G | XP_011514055.1:p.Ile1196Val | |
| XM_011515754.1:c.3586A>G | XP_011514056.1:p.Ile1196Val | |
| NM_000492.4:c.3829A>G MANE Select | NP_000483.3:p.Ile1277Val |