Linked Data
ClinVar Variation Id:
2182436
ClinVar RCV Id:
RCV002610848
dbSNP Id:
rs1000104971
gnomAD v4:
7-117592650-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592650A>G , CM000669.2:g.117592650A>G | GRCh38 |
| NC_000007.13:g.117232704A>G , CM000669.1:g.117232704A>G | GRCh37 |
| NC_000007.12:g.117019940A>G | NCBI36 |
| NG_016465.4:g.131867A>G , LRG_663:g.131867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2483A>G | ENSP00000497673.2:p.Asp828Gly | |
| ENST00000647978.2:c.*2197A>G | ENSP00000497658.1:n.*2197A>G | |
| ENST00000649781.2:c.2300A>G | ENSP00000497203.1:p.Asp767Gly | |
| ENST00000685018.2:c.2483A>G | ENSP00000510194.2:p.Asp828Gly | |
| ENST00000687278.2:c.2483A>G | ENSP00000509593.2:p.Asp828Gly | |
| ENST00000699585.1:c.2483A>G | ENSP00000514456.1:p.Asp828Gly | |
| ENST00000699598.1:c.2483A>G | ENSP00000514467.1:p.Asp828Gly | |
| ENST00000699599.1:c.2483A>G | ENSP00000514468.1:p.Asp828Gly | |
| ENST00000699600.1:c.2483A>G | ENSP00000514469.1:p.Asp828Gly | |
| ENST00000699601.1:c.*783A>G | ENSP00000514470.1:n.*783A>G | |
| ENST00000699602.1:c.2483A>G | ENSP00000514471.1:p.Asp828Gly | |
| ENST00000699604.1:c.*2307A>G | ENSP00000514472.1:n.*2307A>G | |
| ENST00000699605.1:c.2057A>G | ENSP00000514473.1:p.Asp686Gly | |
| ENST00000687278.1:c.74A>G | ENSP00000509593.1:p.Asp25Gly | |
| ENST00000003084.11:c.2483A>G MANE Select | ENSP00000003084.6:p.Asp828Gly | |
| ENST00000647720.1:c.133A>G | ||
| ENST00000647978.1:c.*2197A>G | ENSP00000497658.1:n.*2197A>G | |
| ENST00000648260.1:c.1402-10176A>G | ENSP00000497957.1:n.1402-10176A>G | |
| ENST00000649406.1:c.2300A>G | ENSP00000497965.1:p.Asp767Gly | |
| ENST00000649781.1:c.2300A>G | ENSP00000497203.1:p.Asp767Gly | |
| ENST00000003084.10:c.2483A>G | ENSP00000003084.6:p.Asp828Gly | |
| ENST00000426809.5:c.2393A>G | ENSP00000389119.1:p.Asp798Gly | |
| NM_000492.3:c.2483A>G , LRG_663t1:c.2483A>G | NP_000483.3:p.Asp828Gly | |
| XM_011515751.1:c.2573A>G | XP_011514053.1:p.Asp858Gly | |
| XM_011515752.1:c.2573A>G | XP_011514054.1:p.Asp858Gly | |
| XM_011515753.1:c.2240A>G | XP_011514055.1:p.Asp747Gly | |
| XM_011515754.1:c.2240A>G | XP_011514056.1:p.Asp747Gly | |
| NM_000492.4:c.2483A>G MANE Select | NP_000483.3:p.Asp828Gly |