Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10123638G>C , CM000665.2:g.10123638G>C | GRCh38 |
| NC_000003.11:g.10165322G>C , CM000665.1:g.10165322G>C | GRCh37 |
| NC_000003.10:g.10140322G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018462.5:c.119-1988G>C MANE Select | NP_060932.2:n.119-1988G>C |
| ENST00000530758.2:c.119-1988G>C MANE Select | ENSP00000432472.1:n.119-1988G>C |
| NM_018462.4:c.119-1988G>C | NP_060932.2:n.119-1988G>C |
| ENST00000530758.1:c.119-1988G>C | ENSP00000432472.1:n.119-1988G>C |