Linked Data
ClinVar Variation Id:
1496728
ClinVar RCV Id:
RCV002028585
dbSNP Id:
rs2130962947
gnomAD v4:
8-99868331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868331A>G , CM000670.2:g.99868331A>G | GRCh38 |
| NC_000008.10:g.100880559A>G , CM000670.1:g.100880559A>G | GRCh37 |
| NC_000008.9:g.100949735A>G | NCBI36 |
| NG_007098.2:g.860066A>G , LRG_351:g.860066A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*427A>G | ENSP00000507923.1:n.*427A>G | |
| ENST00000682358.1:n.11403A>G | ||
| ENST00000683334.1:c.*7015A>G | ENSP00000507369.1:n.*7015A>G | |
| ENST00000357162.7:c.11258A>G MANE Select | ENSP00000349685.2:p.Gln3753Arg | |
| ENST00000358544.7:c.11333A>G MANE Plus Clinical | ENSP00000351346.2:p.Gln3778Arg | |
| ENST00000357162.6:c.11258A>G | ENSP00000349685.2:p.Gln3753Arg | |
| ENST00000358544.6:c.11333A>G | ENSP00000351346.2:p.Gln3778Arg | |
| ENST00000493587.1:n.275A>G | ||
| NM_017890.4:c.11333A>G , LRG_351t1:c.11333A>G | NP_060360.3:p.Gln3778Arg | |
| NM_152564.4:c.11258A>G , LRG_351t2:c.11258A>G | NP_689777.3:p.Gln3753Arg | |
| XM_005250800.2:c.11333A>G | XP_005250857.1:p.Gln3778Arg | |
| XM_005250801.3:c.11333A>G | XP_005250858.1:p.Gln3778Arg | |
| XM_011516848.1:c.11330A>G | XP_011515150.1:p.Gln3777Arg | |
| XM_011516849.1:c.11255A>G | XP_011515151.1:p.Gln3752Arg | |
| XM_011516850.1:c.10955A>G | XP_011515152.1:p.Gln3652Arg | |
| XM_011516851.1:c.8219A>G | XP_011515153.1:p.Gln2740Arg | |
| XM_011516852.1:c.8219A>G | XP_011515154.1:p.Gln2740Arg | |
| XM_011516854.1:c.7112A>G | XP_011515156.1:p.Gln2371Arg | |
| XM_005250800.3:c.11333A>G | XP_005250857.1:p.Gln3778Arg | |
| XM_005250801.5:c.11333A>G | XP_005250858.1:p.Gln3778Arg | |
| XM_011516848.2:c.11330A>G | XP_011515150.1:p.Gln3777Arg | |
| XM_011516849.2:c.11255A>G | XP_011515151.1:p.Gln3752Arg | |
| XM_011516850.2:c.10955A>G | XP_011515152.1:p.Gln3652Arg | |
| XM_011516851.2:c.8219A>G | XP_011515153.1:p.Gln2740Arg | |
| XM_011516852.2:c.8219A>G | XP_011515154.1:p.Gln2740Arg | |
| XM_011516854.2:c.7112A>G | XP_011515156.1:p.Gln2371Arg | |
| XM_017013109.1:c.11138A>G | XP_016868598.1:p.Gln3713Arg | |
| XM_017013111.1:c.8219A>G | XP_016868600.1:p.Gln2740Arg | |
| XM_017013112.1:c.6890A>G | XP_016868601.1:p.Gln2297Arg | |
| XM_024447074.1:c.10118A>G | XP_024302842.1:p.Gln3373Arg | |
| NM_017890.5:c.11333A>G MANE Plus Clinical | NP_060360.3:p.Gln3778Arg | |
| NM_152564.5:c.11258A>G MANE Select | NP_689777.3:p.Gln3753Arg |