Linked Data
ClinVar Variation Id:
2782800
ClinVar RCV Id:
RCV003664199
dbSNP Id:
rs1369630811
gnomAD v2:
20-44644931-G-C
gnomAD v3:
20-46016292-G-C
gnomAD v4:
20-46016292-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016292G>C , CM000682.2:g.46016292G>C | GRCh38 |
| NC_000020.10:g.44644931G>C , CM000682.1:g.44644931G>C | GRCh37 |
| NC_000020.9:g.44078338G>C | NCBI36 |
| NG_011468.1:g.12385G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.2048G>C (MMP9) MANE Select | ENSP00000361405.3:p.Ser683Thr | |
| NM_004994.2:c.2048G>C (MMP9) | NP_004985.2:p.Ser683Thr | |
| NR_147699.1:n.669-1504C>G (SLC12A5-AS1) | ||
| NM_004994.3:c.2048G>C (MMP9) MANE Select | NP_004985.2:p.Ser683Thr |