Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10118112G>A , CM000665.2:g.10118112G>A | GRCh38 |
| NC_000003.11:g.10159796G>A , CM000665.1:g.10159796G>A | GRCh37 |
| NC_000003.10:g.10134796G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018462.5:c.118+2293G>A MANE Select | NP_060932.2:n.118+2293G>A |
| ENST00000530758.2:c.118+2293G>A MANE Select | ENSP00000432472.1:n.118+2293G>A |
| NM_018462.4:c.118+2293G>A | NP_060932.2:n.118+2293G>A |
| ENST00000530758.1:c.118+2293G>A | ENSP00000432472.1:n.118+2293G>A |