Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46013767G>C , CM000682.2:g.46013767G>C | GRCh38 |
| NC_000020.10:g.44642406G>C , CM000682.1:g.44642406G>C | GRCh37 |
| NC_000020.9:g.44075813G>C | NCBI36 |
| NG_011468.1:g.9860G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004994.3:c.1721G>C (MMP9) MANE Select | NP_004985.2:p.Arg574Pro |
| ENST00000372330.3:c.1721G>C (MMP9) MANE Select | ENSP00000361405.3:p.Arg574Pro |
| NM_004994.2:c.1721G>C (MMP9) | NP_004985.2:p.Arg574Pro |
| NR_147699.1:n.1690C>G (SLC12A5-AS1) |