Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9893310A>G , CM000665.2:g.9893310A>G | GRCh38 |
| NC_000003.11:g.9934994A>G , CM000665.1:g.9934994A>G | GRCh37 |
| NC_000003.10:g.9909994A>G | NCBI36 |
| NG_041779.1:g.7724A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032492.4:c.485A>G MANE Select | NP_115881.3:p.Gln162Arg |
| ENST00000647897.1:c.485A>G MANE Select | ENSP00000496942.1:p.Gln162Arg |
| NM_001363890.1:c.323A>G | NP_001350819.1:p.Gln108Arg |
| NM_032492.3:c.485A>G | NP_115881.3:p.Gln162Arg |
| ENST00000307768.4:c.485A>G | ENSP00000306106.4:p.Gln162Arg |
| ENST00000489724.2:c.*438A>G | ENSP00000497724.1:n.*438A>G |
| ENST00000616966.2:c.479A>G | ENSP00000481606.1:p.Gln160Arg |