Canonical Allele Identifier: CA186148

Gene: MMP13

Linked Data

• ClinVar Variation Id: 183688
• ClinVar RCV Id: RCV000162348 ; RCV001386014
• dbSNP Id: rs369083541
• ExAC: 11:102826018 G / A
• gnomAD v2: 11-102826018-G-A
• gnomAD v3: 11-102955289-G-A
• gnomAD v4: 11-102955289-G-A
• MyVariant Identifiers: chr11:g.102826018G>A (hg19) ; chr11:g.102955289G>A (hg38)
• PubMed: PMID:24781753

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102955289G>A , CM000673.2:g.102955289G>A	GRCh38
NC_000011.9:g.102826018G>A , CM000673.1:g.102826018G>A	GRCh37
NC_000011.8:g.102331228G>A	NCBI36
NG_021404.1:g.5446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.325C>T MANE Select	ENSP00000260302.3:p.Arg109Ter
ENST00000260302.7:c.325C>T	ENSP00000260302.3:p.Arg109Ter
ENST00000340273.4:c.325C>T	ENSP00000339672.4:p.Arg109Ter
ENST00000615555.4:c.325C>T	ENSP00000482883.1:p.Arg109Ter
NM_002427.3:c.325C>T	NP_002418.1:p.Arg109Ter
NM_002427.4:c.325C>T MANE Select	NP_002418.1:p.Arg109Ter