Linked Data
ClinVar Variation Id:
760606
ClinVar RCV Id:
RCV000938573
dbSNP Id:
rs144980991
ExAC:
7:89938653 A / G
gnomAD v2:
7-89938653-A-G
gnomAD v3:
7-90309339-A-G
gnomAD v4:
7-90309339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.90309339A>G , CM000669.2:g.90309339A>G | GRCh38 |
| NC_000007.13:g.89938653A>G , CM000669.1:g.89938653A>G | GRCh37 |
| NC_000007.12:g.89776589A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389297.8:c.2627A>G MANE Select | ENSP00000373948.4:p.Gln876Arg | |
| ENST00000412839.5:c.312A>G | ||
| ENST00000445156.1:c.110-729A>G | ||
| ENST00000449577.5:c.1238A>G | ENSP00000391571.1:p.Gln413Arg | |
| ENST00000475031.5:n.6617A>G | ||
| ENST00000497910.5:c.2573A>G | ENSP00000419549.1:p.Gln858Arg | |
| NM_001039706.2:c.2627A>G | NP_001034795.2:p.Gln876Arg | |
| NM_001160138.1:c.2573A>G | NP_001153610.1:p.Gln858Arg | |
| XM_011516576.1:c.2627A>G | XP_011514878.1:p.Gln876Arg | |
| XM_011516577.1:c.2627A>G | XP_011514879.1:p.Gln876Arg | |
| XM_011516578.1:c.2627A>G | XP_011514880.1:p.Gln876Arg | |
| XR_242264.2:n.2634A>G | ||
| XR_927530.1:n.2857A>G | ||
| XR_927531.1:n.2857A>G | ||
| XR_927532.1:n.2777A>G | ||
| XR_927533.1:n.2781A>G | ||
| NM_001363438.1:c.2429A>G | NP_001350367.1:p.Gln810Arg | |
| XM_011516577.2:c.2627A>G | XP_011514879.1:p.Gln876Arg | |
| XM_011516578.2:c.2627A>G | XP_011514880.1:p.Gln876Arg | |
| XM_017012624.1:c.2573A>G | XP_016868113.1:p.Gln858Arg | |
| XM_017012625.1:c.2551-729A>G | XP_016868114.1:n.2551-729A>G | |
| XM_017012626.1:c.2551-729A>G | XP_016868115.1:n.2551-729A>G | |
| XM_017012627.1:c.2489A>G | XP_016868116.1:p.Gln830Arg | |
| XM_017012628.1:c.2429A>G | XP_016868117.1:p.Gln810Arg | |
| XM_017012629.1:c.2408A>G | XP_016868118.1:p.Gln803Arg | |
| XM_017012631.1:c.2339A>G | XP_016868120.1:p.Gln780Arg | |
| XM_017012632.1:c.2353-729A>G | XP_016868121.1:n.2353-729A>G | |
| XM_017012633.2:c.2186A>G | XP_016868122.1:p.Gln729Arg | |
| XM_017012634.1:c.2186A>G | XP_016868123.1:p.Gln729Arg | |
| XM_017012635.2:c.2186A>G | XP_016868124.1:p.Gln729Arg | |
| XM_017012636.1:c.2186A>G | XP_016868125.1:p.Gln729Arg | |
| XM_017012637.1:c.2132A>G | XP_016868126.1:p.Gln711Arg | |
| XM_017012638.1:c.2132A>G | XP_016868127.1:p.Gln711Arg | |
| XM_017012639.1:c.1994A>G | XP_016868128.1:p.Gln665Arg | |
| XM_017012640.1:c.1736A>G | XP_016868129.1:p.Gln579Arg | |
| XR_927531.2:n.2857A>G | ||
| NM_001039706.3:c.2627A>G MANE Select | NP_001034795.2:p.Gln876Arg | |
| NM_001160138.2:c.2573A>G | NP_001153610.1:p.Gln858Arg |