Canonical Allele Identifier: CA9886437
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3169824
ClinVar RCV Id: RCV004458182
dbSNP Id: rs201932479
ExAC: 20:44639588 G / C
gnomAD v2: 20-44639588-G-C
gnomAD v3: 20-46010949-G-C
gnomAD v4: 20-46010949-G-C
MyVariant Identifiers: chr20:g.44639588G>C (hg19) chr20:g.46010949G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010949G>C , CM000682.2:g.46010949G>C GRCh38
NC_000020.10:g.44639588G>C , CM000682.1:g.44639588G>C GRCh37
NC_000020.9:g.44072995G>C NCBI36
NG_011468.1:g.7042G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.548G>C MANE Select ENSP00000361405.3:p.Gly183Ala
NM_004994.2:c.548G>C NP_004985.2:p.Gly183Ala
NM_004994.3:c.548G>C MANE Select NP_004985.2:p.Gly183Ala
Search 100 bp 5'
Search 100 bp 3'