Linked Data
ClinVar Variation Id:
570891
ClinVar RCV Id:
RCV000691872
dbSNP Id:
rs1562914085
gnomAD v3:
7-117610543-A-G
gnomAD v4:
7-117610543-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610543A>G , CM000669.2:g.117610543A>G | GRCh38 |
| NC_000007.13:g.117250597A>G , CM000669.1:g.117250597A>G | GRCh37 |
| NC_000007.12:g.117037833A>G | NCBI36 |
| NG_016465.4:g.149760A>G , LRG_663:g.149760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3013A>G | ENSP00000497673.2:p.Ile1005Val | |
| ENST00000647978.2:c.*2727A>G | ENSP00000497658.1:n.*2727A>G | |
| ENST00000649781.2:c.2830A>G | ENSP00000497203.1:p.Ile944Val | |
| ENST00000685018.2:c.3013A>G | ENSP00000510194.2:p.Ile1005Val | |
| ENST00000687278.2:c.3013A>G | ENSP00000509593.2:p.Ile1005Val | |
| ENST00000699585.1:c.3013A>G | ENSP00000514456.1:p.Ile1005Val | |
| ENST00000699598.1:c.3013A>G | ENSP00000514467.1:p.Ile1005Val | |
| ENST00000699599.1:c.3013A>G | ENSP00000514468.1:p.Ile1005Val | |
| ENST00000699600.1:c.3013A>G | ENSP00000514469.1:p.Ile1005Val | |
| ENST00000699601.1:c.*1313A>G | ENSP00000514470.1:n.*1313A>G | |
| ENST00000699602.1:c.3013A>G | ENSP00000514471.1:p.Ile1005Val | |
| ENST00000699604.1:c.*2837A>G | ENSP00000514472.1:n.*2837A>G | |
| ENST00000699605.1:c.2587A>G | ENSP00000514473.1:p.Ile863Val | |
| ENST00000687278.1:c.604A>G | ENSP00000509593.1:p.Ile202Val | |
| ENST00000003084.11:c.3013A>G MANE Select | ENSP00000003084.6:p.Ile1005Val | |
| ENST00000647720.1:c.663A>G | ||
| ENST00000648260.1:c.1795A>G | ENSP00000497957.1:p.Ile599Val | |
| ENST00000649406.1:c.2830A>G | ENSP00000497965.1:p.Ile944Val | |
| ENST00000649781.1:c.2830A>G | ENSP00000497203.1:p.Ile944Val | |
| ENST00000003084.10:c.3013A>G | ENSP00000003084.6:p.Ile1005Val | |
| ENST00000426809.5:c.2923A>G | ENSP00000389119.1:p.Ile975Val | |
| NM_000492.3:c.3013A>G , LRG_663t1:c.3013A>G | NP_000483.3:p.Ile1005Val | |
| XM_011515751.1:c.3103A>G | XP_011514053.1:p.Ile1035Val | |
| XM_011515752.1:c.3103A>G | XP_011514054.1:p.Ile1035Val | |
| XM_011515753.1:c.2770A>G | XP_011514055.1:p.Ile924Val | |
| XM_011515754.1:c.2770A>G | XP_011514056.1:p.Ile924Val | |
| NM_000492.4:c.3013A>G MANE Select | NP_000483.3:p.Ile1005Val |