Linked Data
dbSNP Id:
rs137904662
ExAC:
20:44644927 G / T
gnomAD v2:
20-44644927-G-T
gnomAD v4:
20-46016288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016288G>T , CM000682.2:g.46016288G>T | GRCh38 |
| NC_000020.10:g.44644927G>T , CM000682.1:g.44644927G>T | GRCh37 |
| NC_000020.9:g.44078334G>T | NCBI36 |
| NG_011468.1:g.12381G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.2044G>T (MMP9) MANE Select | ENSP00000361405.3:p.Val682Leu | |
| NM_004994.2:c.2044G>T (MMP9) | NP_004985.2:p.Val682Leu | |
| NR_147699.1:n.669-1500C>A (SLC12A5-AS1) | ||
| NM_004994.3:c.2044G>T (MMP9) MANE Select | NP_004985.2:p.Val682Leu |