Linked Data
ClinVar Variation Id:
1727483
ClinVar RCV Id:
RCV002325823
dbSNP Id:
rs748522610
ExAC:
7:117250677 A / G
gnomAD v2:
7-117250677-A-G
gnomAD v3:
7-117610623-A-G
gnomAD v4:
7-117610623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610623A>G , CM000669.2:g.117610623A>G | GRCh38 |
| NC_000007.13:g.117250677A>G , CM000669.1:g.117250677A>G | GRCh37 |
| NC_000007.12:g.117037913A>G | NCBI36 |
| NG_016465.4:g.149840A>G , LRG_663:g.149840A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3093A>G | ENSP00000497673.2:p.Ala1031= | |
| ENST00000647978.2:c.*2807A>G | ENSP00000497658.1:n.*2807A>G | |
| ENST00000649781.2:c.2910A>G | ENSP00000497203.1:p.Ala970= | |
| ENST00000685018.2:c.3093A>G | ENSP00000510194.2:p.Ala1031= | |
| ENST00000687278.2:c.3093A>G | ENSP00000509593.2:p.Ala1031= | |
| ENST00000699585.1:c.3093A>G | ENSP00000514456.1:p.Ala1031= | |
| ENST00000699598.1:c.3093A>G | ENSP00000514467.1:p.Ala1031= | |
| ENST00000699599.1:c.3093A>G | ENSP00000514468.1:p.Ala1031= | |
| ENST00000699600.1:c.3093A>G | ENSP00000514469.1:p.Ala1031= | |
| ENST00000699601.1:c.*1393A>G | ENSP00000514470.1:n.*1393A>G | |
| ENST00000699602.1:c.3093A>G | ENSP00000514471.1:p.Ala1031= | |
| ENST00000699604.1:c.*2917A>G | ENSP00000514472.1:n.*2917A>G | |
| ENST00000699605.1:c.2667A>G | ENSP00000514473.1:p.Ala889= | |
| ENST00000687278.1:c.684A>G | ENSP00000509593.1:p.Ala228= | |
| ENST00000003084.11:c.3093A>G MANE Select | ENSP00000003084.6:p.Ala1031= | |
| ENST00000647720.1:c.743A>G | ||
| ENST00000648260.1:c.1875A>G | ENSP00000497957.1:p.Ala625= | |
| ENST00000649406.1:c.2910A>G | ENSP00000497965.1:p.Ala970= | |
| ENST00000649781.1:c.2910A>G | ENSP00000497203.1:p.Ala970= | |
| ENST00000003084.10:c.3093A>G | ENSP00000003084.6:p.Ala1031= | |
| ENST00000426809.5:c.3003A>G | ENSP00000389119.1:p.Ala1001= | |
| NM_000492.3:c.3093A>G , LRG_663t1:c.3093A>G | NP_000483.3:p.Ala1031= | |
| XM_011515751.1:c.3183A>G | XP_011514053.1:p.Ala1061= | |
| XM_011515752.1:c.3183A>G | XP_011514054.1:p.Ala1061= | |
| XM_011515753.1:c.2850A>G | XP_011514055.1:p.Ala950= | |
| XM_011515754.1:c.2850A>G | XP_011514056.1:p.Ala950= | |
| NM_000492.4:c.3093A>G MANE Select | NP_000483.3:p.Ala1031= |