Linked Data
dbSNP Id:
rs747555081
ExAC:
16:81922802 A / G
gnomAD v2:
16-81922802-A-G
gnomAD v4:
16-81889197-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889197A>G , CM000678.2:g.81889197A>G | GRCh38 |
| NC_000016.9:g.81922802A>G , CM000678.1:g.81922802A>G | GRCh37 |
| NC_000016.8:g.80480303A>G | NCBI36 |
| NG_032019.2:g.155101A>G , LRG_376:g.155101A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.791A>G | ENSP00000455533.2:p.Lys264Arg | |
| ENST00000697561.1:c.*220A>G | ENSP00000513337.1:n.*220A>G | |
| ENST00000697562.1:c.791A>G | ENSP00000513338.1:p.Lys264Arg | |
| ENST00000697563.1:c.*637A>G | ENSP00000513339.1:n.*637A>G | |
| ENST00000697564.1:c.674A>G | ENSP00000513340.1:p.Lys225Arg | |
| ENST00000697565.1:n.731A>G | ||
| ENST00000697581.1:c.*785A>G | ENSP00000513346.1:n.*785A>G | |
| ENST00000697582.1:c.791A>G | ENSP00000513347.1:p.Lys264Arg | |
| ENST00000697583.1:c.590A>G | ENSP00000513349.1:p.Lys197Arg | |
| ENST00000697584.1:c.590A>G | ENSP00000513350.1:p.Lys197Arg | |
| ENST00000697585.1:c.590A>G | ENSP00000513351.1:p.Lys197Arg | |
| ENST00000697586.1:c.590A>G | ENSP00000513352.1:p.Lys197Arg | |
| ENST00000697587.1:c.590A>G | ENSP00000513353.1:p.Lys197Arg | |
| ENST00000564138.6:c.791A>G MANE Select | ENSP00000482457.1:p.Lys264Arg | |
| ENST00000359376.7:c.791A>G | ENSP00000352336.4:p.Lys264Arg | |
| ENST00000563193.1:c.99A>G | ||
| ENST00000564138.5:c.791A>G | ENSP00000482457.1:p.Lys264Arg | |
| ENST00000567980.5:n.1035A>G | ||
| NM_002661.4:c.791A>G | NP_002652.2:p.Lys264Arg | |
| XM_011523108.1:c.905A>G | XP_011521410.1:p.Lys302Arg | |
| NM_002661.5:c.791A>G MANE Select | NP_002652.2:p.Lys264Arg |