Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945973T>C , CM000679.2:g.4945973T>C | GRCh38 |
| NC_000017.10:g.4849268T>C , CM000679.1:g.4849268T>C | GRCh37 |
| NC_000017.9:g.4790013T>C | NCBI36 |
| NG_012063.2:g.4883T>C | |
| NG_032945.1:g.8114A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005022.4:c.350A>G MANE Select | NP_005013.1:p.Glu117Gly |
| ENST00000225655.6:c.350A>G MANE Select | ENSP00000225655.5:p.Glu117Gly |
| NM_001375991.1:c.*434A>G | NP_001362920.1:n.*434A>G |
| NM_005022.3:c.350A>G | NP_005013.1:p.Glu117Gly |
| ENST00000225655.5:c.350A>G | ENSP00000225655.5:p.Glu117Gly |
| ENST00000574872.1:c.242A>G | ENSP00000465019.1:p.Glu81Gly |
| XM_017024761.1:c.*434A>G | XP_016880250.1:n.*434A>G |