Linked Data
dbSNP Id:
rs757283289
ExAC:
20:44644968 C / G
gnomAD v2:
20-44644968-C-G
gnomAD v4:
20-46016329-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016329C>G , CM000682.2:g.46016329C>G | GRCh38 |
| NC_000020.10:g.44644968C>G , CM000682.1:g.44644968C>G | GRCh37 |
| NC_000020.9:g.44078375C>G | NCBI36 |
| NG_011468.1:g.12422C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.2085C>G (MMP9) MANE Select | ENSP00000361405.3:p.Gly695= | |
| NM_004994.2:c.2085C>G (MMP9) | NP_004985.2:p.Gly695= | |
| NR_147699.1:n.669-1541G>C (SLC12A5-AS1) | ||
| NM_004994.3:c.2085C>G (MMP9) MANE Select | NP_004985.2:p.Gly695= |