Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670855G>C , CM000665.2:g.81670855G>C | GRCh38 |
| NC_000003.11:g.81720006G>C , CM000665.1:g.81720006G>C | GRCh37 |
| NC_000003.10:g.81802696G>C | NCBI36 |
| NG_011810.1:g.95946C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.412C>G MANE Select | ENSP00000410833.2:p.His138Asp | |
| ENST00000429644.6:c.412C>G | ENSP00000410833.2:p.His138Asp | |
| ENST00000477426.1:n.128C>G | ||
| ENST00000489715.1:c.289C>G | ENSP00000419638.1:p.His97Asp | |
| NM_000158.3:c.412C>G | NP_000149.3:p.His138Asp | |
| NM_000158.4:c.412C>G MANE Select | NP_000149.4:p.His138Asp |