Linked Data
dbSNP Id:
rs1352306979
gnomAD v2:
7-117267606-A-G
gnomAD v4:
7-117627552-A-G
COSMIC:
COSM1643221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627552A>G , CM000669.2:g.117627552A>G | GRCh38 |
| NC_000007.13:g.117267606A>G , CM000669.1:g.117267606A>G | GRCh37 |
| NC_000007.12:g.117054842A>G | NCBI36 |
| NG_016465.4:g.166769A>G , LRG_663:g.166769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3499A>G | ENSP00000497673.2:p.Ile1167Val | |
| ENST00000647978.2:c.*3213A>G | ENSP00000497658.1:n.*3213A>G | |
| ENST00000649781.2:c.3316A>G | ENSP00000497203.1:p.Ile1106Val | |
| ENST00000685018.2:c.3499A>G | ENSP00000510194.2:p.Ile1167Val | |
| ENST00000687278.2:c.*152A>G | ENSP00000509593.2:n.*152A>G | |
| ENST00000699585.1:c.3499A>G | ENSP00000514456.1:p.Ile1167Val | |
| ENST00000699598.1:c.3499A>G | ENSP00000514467.1:p.Ile1167Val | |
| ENST00000699599.1:c.3499A>G | ENSP00000514468.1:p.Ile1167Val | |
| ENST00000699600.1:c.*160A>G | ENSP00000514469.1:n.*160A>G | |
| ENST00000699601.1:c.*1874A>G | ENSP00000514470.1:n.*1874A>G | |
| ENST00000699602.1:c.3493A>G | ENSP00000514471.1:p.Ile1165Val | |
| ENST00000699604.1:c.*3323A>G | ENSP00000514472.1:n.*3323A>G | |
| ENST00000699605.1:c.3073A>G | ENSP00000514473.1:p.Ile1025Val | |
| ENST00000685018.1:c.247A>G | ENSP00000510194.1:p.Ile83Val | |
| ENST00000687278.1:c.1286A>G | ENSP00000509593.1:n.1286A>G | |
| ENST00000689011.1:c.81A>G | ||
| ENST00000003084.11:c.3499A>G MANE Select | ENSP00000003084.6:p.Ile1167Val | |
| ENST00000647720.1:c.1149A>G | ||
| ENST00000648260.1:c.2281A>G | ENSP00000497957.1:p.Ile761Val | |
| ENST00000649406.1:c.3316A>G | ENSP00000497965.1:p.Ile1106Val | |
| ENST00000649781.1:c.3316A>G | ENSP00000497203.1:p.Ile1106Val | |
| ENST00000003084.10:c.3499A>G | ENSP00000003084.6:p.Ile1167Val | |
| ENST00000426809.5:c.3409A>G | ENSP00000389119.1:p.Ile1137Val | |
| ENST00000468795.1:c.324A>G | ||
| NM_000492.3:c.3499A>G , LRG_663t1:c.3499A>G | NP_000483.3:p.Ile1167Val | |
| XM_011515751.1:c.3589A>G | XP_011514053.1:p.Ile1197Val | |
| XM_011515752.1:c.3589A>G | XP_011514054.1:p.Ile1197Val | |
| XM_011515753.1:c.3256A>G | XP_011514055.1:p.Ile1086Val | |
| XM_011515754.1:c.3256A>G | XP_011514056.1:p.Ile1086Val | |
| NM_000492.4:c.3499A>G MANE Select | NP_000483.3:p.Ile1167Val |