Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594551C>G , CM000679.2:g.56594551C>G | GRCh38 |
| NC_000017.10:g.54671912C>G , CM000679.1:g.54671912C>G | GRCh37 |
| NC_000017.9:g.52026911C>G | NCBI36 |
| NG_011958.1:g.5853C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005450.6:c.328C>G MANE Select | NP_005441.1:p.Gln110Glu |
| ENST00000332822.6:c.328C>G MANE Select | ENSP00000328181.4:p.Gln110Glu |
| NM_005450.4:c.328C>G | NP_005441.1:p.Gln110Glu |
| ENST00000332822.4:c.328C>G | ENSP00000328181.4:p.Gln110Glu |