Linked Data
ClinVar Variation Id:
1692452
ClinVar RCV Id:
RCV002257210
dbSNP Id:
rs2116069322
gnomAD v4:
7-117606679-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606679A>G , CM000669.2:g.117606679A>G | GRCh38 |
| NC_000007.13:g.117246733A>G , CM000669.1:g.117246733A>G | GRCh37 |
| NC_000007.12:g.117033969A>G | NCBI36 |
| NG_016465.4:g.145896A>G , LRG_663:g.145896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2914A>G | ENSP00000497673.2:p.Ile972Val | |
| ENST00000647978.2:c.*2628A>G | ENSP00000497658.1:n.*2628A>G | |
| ENST00000649781.2:c.2731A>G | ENSP00000497203.1:p.Ile911Val | |
| ENST00000685018.2:c.2914A>G | ENSP00000510194.2:p.Ile972Val | |
| ENST00000687278.2:c.2914A>G | ENSP00000509593.2:p.Ile972Val | |
| ENST00000699585.1:c.2914A>G | ENSP00000514456.1:p.Ile972Val | |
| ENST00000699598.1:c.2914A>G | ENSP00000514467.1:p.Ile972Val | |
| ENST00000699599.1:c.2914A>G | ENSP00000514468.1:p.Ile972Val | |
| ENST00000699600.1:c.2914A>G | ENSP00000514469.1:p.Ile972Val | |
| ENST00000699601.1:c.*1214A>G | ENSP00000514470.1:n.*1214A>G | |
| ENST00000699602.1:c.2914A>G | ENSP00000514471.1:p.Ile972Val | |
| ENST00000699604.1:c.*2738A>G | ENSP00000514472.1:n.*2738A>G | |
| ENST00000699605.1:c.2488A>G | ENSP00000514473.1:p.Ile830Val | |
| ENST00000687278.1:c.505A>G | ENSP00000509593.1:p.Ile169Val | |
| ENST00000003084.11:c.2914A>G MANE Select | ENSP00000003084.6:p.Ile972Val | |
| ENST00000647720.1:c.564A>G | ||
| ENST00000648260.1:c.1696A>G | ENSP00000497957.1:p.Ile566Val | |
| ENST00000649406.1:c.2731A>G | ENSP00000497965.1:p.Ile911Val | |
| ENST00000649781.1:c.2731A>G | ENSP00000497203.1:p.Ile911Val | |
| ENST00000003084.10:c.2914A>G | ENSP00000003084.6:p.Ile972Val | |
| ENST00000426809.5:c.2824A>G | ENSP00000389119.1:p.Ile942Val | |
| NM_000492.3:c.2914A>G , LRG_663t1:c.2914A>G | NP_000483.3:p.Ile972Val | |
| XM_011515751.1:c.3004A>G | XP_011514053.1:p.Ile1002Val | |
| XM_011515752.1:c.3004A>G | XP_011514054.1:p.Ile1002Val | |
| XM_011515753.1:c.2671A>G | XP_011514055.1:p.Ile891Val | |
| XM_011515754.1:c.2671A>G | XP_011514056.1:p.Ile891Val | |
| NM_000492.4:c.2914A>G MANE Select | NP_000483.3:p.Ile972Val |