Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2434498A>C , CM000681.2:g.2434498A>C | GRCh38 |
| NC_000019.9:g.2434496A>C , CM000681.1:g.2434496A>C | GRCh37 |
| NC_000019.8:g.2385496A>C | NCBI36 |
| NG_008355.1:g.27463T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.999T>G MANE Select | NP_116126.3:p.Asp333Glu |
| ENST00000325327.4:c.999T>G MANE Select | ENSP00000327054.3:p.Asp333Glu |
| NM_032737.3:c.999T>G | NP_116126.3:p.Asp333Glu |
| ENST00000325327.3:c.999T>G | ENSP00000327054.3:p.Asp333Glu |
| ENST00000490554.5:n.190T>G | |
| ENST00000527409.1:n.635T>G | |
| XM_011528378.1:c.999T>G | XP_011526680.1:p.Asp333Glu |
| XM_011528379.1:c.651T>G | XP_011526681.1:p.Asp217Glu |