Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10123617A>G , CM000665.2:g.10123617A>G | GRCh38 |
| NC_000003.11:g.10165301A>G , CM000665.1:g.10165301A>G | GRCh37 |
| NC_000003.10:g.10140301A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530758.2:c.119-2009A>G MANE Select | ENSP00000432472.1:n.119-2009A>G | |
| ENST00000530758.1:c.119-2009A>G | ENSP00000432472.1:n.119-2009A>G | |
| NM_018462.4:c.119-2009A>G | NP_060932.2:n.119-2009A>G | |
| NM_018462.5:c.119-2009A>G MANE Select | NP_060932.2:n.119-2009A>G |