Linked Data
gnomAD v4:
20-46016288-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016288G>C , CM000682.2:g.46016288G>C | GRCh38 |
| NC_000020.10:g.44644927G>C , CM000682.1:g.44644927G>C | GRCh37 |
| NC_000020.9:g.44078334G>C | NCBI36 |
| NG_011468.1:g.12381G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.2044G>C (MMP9) MANE Select | ENSP00000361405.3:p.Val682Leu | |
| NM_004994.2:c.2044G>C (MMP9) | NP_004985.2:p.Val682Leu | |
| NR_147699.1:n.669-1500C>G (SLC12A5-AS1) | ||
| NM_004994.3:c.2044G>C (MMP9) MANE Select | NP_004985.2:p.Val682Leu |