Linked Data
ClinVar Variation Id:
439084
dbSNP Id:
rs138025486
ExAC:
7:117306942 A / G
gnomAD v2:
7-117306942-A-G
gnomAD v3:
7-117666888-A-G
gnomAD v4:
7-117666888-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117666888A>G , CM000669.2:g.117666888A>G | GRCh38 |
| NC_000007.13:g.117306942A>G , CM000669.1:g.117306942A>G | GRCh37 |
| NC_000007.12:g.117094178A>G | NCBI36 |
| NG_016465.4:g.206105A>G , LRG_663:g.206105A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*452-20A>G | ENSP00000497673.2:n.*452-20A>G | |
| ENST00000647978.2:c.*3957-20A>G | ENSP00000497658.1:n.*3957-20A>G | |
| ENST00000649781.2:c.4060-20A>G | ENSP00000497203.1:n.4060-20A>G | |
| ENST00000685018.2:c.*456-20A>G | ENSP00000510194.2:n.*456-20A>G | |
| ENST00000687278.2:c.*896-714A>G | ENSP00000509593.2:n.*896-714A>G | |
| ENST00000699585.1:c.*692A>G | ENSP00000514456.1:n.*692A>G | |
| ENST00000699598.1:c.4243-27A>G | ENSP00000514467.1:n.4243-27A>G | |
| ENST00000699599.1:c.*456-20A>G | ENSP00000514468.1:n.*456-20A>G | |
| ENST00000699600.1:c.*904-714A>G | ENSP00000514469.1:n.*904-714A>G | |
| ENST00000699601.1:c.*2618-20A>G | ENSP00000514470.1:n.*2618-20A>G | |
| ENST00000699602.1:c.4237-20A>G | ENSP00000514471.1:n.4237-20A>G | |
| ENST00000699604.1:c.*4067-20A>G | ENSP00000514472.1:n.*4067-20A>G | |
| ENST00000699605.1:c.3817-20A>G | ENSP00000514473.1:n.3817-20A>G | |
| ENST00000699606.1:n.3734A>G | ||
| ENST00000685018.1:c.1107-20A>G | ENSP00000510194.1:n.1107-20A>G | |
| ENST00000687278.1:c.2030-714A>G | ENSP00000509593.1:n.2030-714A>G | |
| ENST00000689011.1:c.1065A>G | ||
| ENST00000003084.11:c.4243-20A>G MANE Select | ENSP00000003084.6:n.4243-20A>G | |
| ENST00000647720.1:c.1693-20A>G | ||
| ENST00000649781.1:c.4060-20A>G | ENSP00000497203.1:n.4060-20A>G | |
| ENST00000003084.10:c.4243-20A>G | ENSP00000003084.6:n.4243-20A>G | |
| ENST00000426809.5:c.4153-20A>G | ENSP00000389119.1:n.4153-20A>G | |
| ENST00000600166.1:c.368+1324A>G | ||
| NM_000492.3:c.4243-20A>G , LRG_663t1:c.4243-20A>G | NP_000483.3:n.4243-20A>G | |
| XM_011515751.1:c.4333-20A>G | XP_011514053.1:n.4333-20A>G | |
| XM_011515752.1:c.*223A>G | XP_011514054.1:n.*223A>G | |
| XM_011515753.1:c.4000-20A>G | XP_011514055.1:n.4000-20A>G | |
| XM_011515754.1:c.4000-20A>G | XP_011514056.1:n.4000-20A>G | |
| NM_000492.4:c.4243-20A>G MANE Select | NP_000483.3:n.4243-20A>G |