Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740606A>G , CM000685.2:g.153740606A>G | GRCh38 |
| NC_000023.10:g.153006060A>G , CM000685.1:g.153006060A>G | GRCh37 |
| NC_000023.9:g.152659254A>G | NCBI36 |
| NG_009022.2:g.20739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1667A>G MANE Select | ENSP00000218104.3:p.Gln556Arg | |
| ENST00000218104.5:c.1667A>G | ENSP00000218104.3:p.Gln556Arg | |
| NM_000033.3:c.1667A>G | NP_000024.2:p.Gln556Arg | |
| XR_938507.1:n.2139A>G | ||
| XR_938507.2:n.2139A>G | ||
| NM_000033.4:c.1667A>G MANE Select | NP_000024.2:p.Gln556Arg |