Linked Data
ClinVar Variation Id:
741450
ClinVar RCV Id:
RCV000917610
dbSNP Id:
rs369032528
ExAC:
20:44644971 C / T
gnomAD v2:
20-44644971-C-T
gnomAD v3:
20-46016332-C-T
gnomAD v4:
20-46016332-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016332C>T , CM000682.2:g.46016332C>T | GRCh38 |
| NC_000020.10:g.44644971C>T , CM000682.1:g.44644971C>T | GRCh37 |
| NC_000020.9:g.44078378C>T | NCBI36 |
| NG_011468.1:g.12425C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.2088C>T (MMP9) MANE Select | ENSP00000361405.3:p.Tyr696= | |
| NM_004994.2:c.2088C>T (MMP9) | NP_004985.2:p.Tyr696= | |
| NR_147699.1:n.669-1544G>A (SLC12A5-AS1) | ||
| NM_004994.3:c.2088C>T (MMP9) MANE Select | NP_004985.2:p.Tyr696= |