Canonical Allele Identifier: CA6251238
Gene: MMP3 HGNC NCBI
COSMIC:
COSM428296 (not active)
MyVariant.info:
GRCh38 chr11:g.102842889T>C
GRCh37 chr11:g.102713620T>C
Revel Score:
ENST00000299855 (MANE Select) 0.007
gnomAD v2:
11:102713620 T / C
gnomAD v3:
11:102842889 T / C
gnomAD v4:
chr11-102842889-T-C
Joint Max Group AF 0.67488029 (AMR)
Genomes Max Group AF 0.67740594 (SAS)
Exomes Max Group AF 0.68836854 (AMR)
ClinVar RCV:
RCV000454524
RCV001598670
ClinVar Variation:
403098
dbSNP:
679620
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102842889T>C , CM000673.2:g.102842889T>C GRCh38
NC_000011.9:g.102713620T>C , CM000673.1:g.102713620T>C GRCh37
NC_000011.8:g.102218830T>C NCBI36
NG_012100.1:g.5723A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299855.10:c.133A>G MANE Select ENSP00000299855.5:p.Lys45Glu
ENST00000299855.9:c.133A>G ENSP00000299855.5:p.Lys45Glu
ENST00000524478.1:c.104A>G ENSP00000435255.1:p.Gln35Arg
NM_002422.3:c.133A>G NP_002413.1:p.Lys45Glu
NM_002422.4:c.133A>G NP_002413.1:p.Lys45Glu
NM_002422.5:c.133A>G MANE Select NP_002413.1:p.Lys45Glu
Search 100 bp 5'
Search 100 bp 3'