Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10123038T>G , CM000665.2:g.10123038T>G | GRCh38 |
| NC_000003.11:g.10164722T>G , CM000665.1:g.10164722T>G | GRCh37 |
| NC_000003.10:g.10139722T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018462.5:c.119-2588T>G MANE Select | NP_060932.2:n.119-2588T>G |
| ENST00000530758.2:c.119-2588T>G MANE Select | ENSP00000432472.1:n.119-2588T>G |
| NM_018462.4:c.119-2588T>G | NP_060932.2:n.119-2588T>G |
| ENST00000530758.1:c.119-2588T>G | ENSP00000432472.1:n.119-2588T>G |