Linked Data
ClinVar Variation Id:
423080
dbSNP Id:
rs753540183
ExAC:
16:68863581 A / G
gnomAD v2:
16-68863581-A-G
gnomAD v3:
16-68829678-A-G
gnomAD v4:
16-68829678-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829678A>G , CM000678.2:g.68829678A>G | GRCh38 |
| NC_000016.9:g.68863581A>G , CM000678.1:g.68863581A>G | GRCh37 |
| NC_000016.8:g.67421082A>G | NCBI36 |
| NG_008021.1:g.97387A>G , LRG_301:g.97387A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2320A>G MANE Select | ENSP00000261769.4:p.Arg774Gly | |
| ENST00000261769.9:c.2320A>G | ENSP00000261769.4:p.Arg774Gly | |
| ENST00000422392.6:c.2137A>G | ENSP00000414946.2:p.Arg713Gly | |
| ENST00000562118.1:n.538A>G | ||
| ENST00000562836.5:n.2391A>G | ||
| ENST00000566510.5:c.*986A>G | ENSP00000458139.1:n.*986A>G | |
| ENST00000566612.5:c.*560A>G | ENSP00000454782.1:n.*560A>G | |
| ENST00000611625.4:c.2383A>G | ENSP00000481063.1:p.Arg795Gly | |
| ENST00000612417.4:c.1853+3124A>G | ENSP00000478360.1:n.1853+3124A>G | |
| ENST00000621016.4:c.1866-4525A>G | ENSP00000480664.1:n.1866-4525A>G | |
| NM_004360.3:c.2320A>G , LRG_301t1:c.2320A>G | NP_004351.1:p.Arg774Gly | |
| XM_011523488.1:c.1585A>G | XP_011521790.1:p.Arg529Gly | |
| XM_011523489.1:c.1585A>G | XP_011521791.1:p.Arg529Gly | |
| NM_001317184.1:c.2137A>G | NP_001304113.1:p.Arg713Gly | |
| NM_001317185.1:c.772A>G | NP_001304114.1:p.Arg258Gly | |
| NM_001317186.1:c.355A>G | NP_001304115.1:p.Arg119Gly | |
| NM_004360.4:c.2320A>G | NP_004351.1:p.Arg774Gly | |
| NM_004360.5:c.2320A>G MANE Select | NP_004351.1:p.Arg774Gly | |
| NM_001317184.2:c.2137A>G | NP_001304113.1:p.Arg713Gly | |
| NM_001317185.2:c.772A>G | NP_001304114.1:p.Arg258Gly | |
| NM_001317186.2:c.355A>G | NP_001304115.1:p.Arg119Gly |