Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016424G>A , CM000682.2:g.46016424G>A | GRCh38 |
| NC_000020.10:g.44645063G>A , CM000682.1:g.44645063G>A | GRCh37 |
| NC_000020.9:g.44078470G>A | NCBI36 |
| NG_011468.1:g.12517G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004994.3:c.*56G>A (MMP9) MANE Select | NP_004985.2:n.*56G>A |
| ENST00000372330.3:c.*56G>A (MMP9) MANE Select | ENSP00000361405.3:n.*56G>A |
| NM_004994.2:c.*56G>A (MMP9) | NP_004985.2:n.*56G>A |
| NR_147699.1:n.669-1636C>T (SLC12A5-AS1) |