Canonical Allele Identifier: CA186146
Gene: MMP13 HGNC NCBI

Linked Data

ClinVar Variation Id: 183687
ClinVar RCV Id: RCV000162347 RCV000303456 RCV004019951
dbSNP Id: rs140059558
ExAC: 11:102824903 A / C
gnomAD v2: 11-102824903-A-C
gnomAD v3: 11-102954174-A-C
gnomAD v4: 11-102954174-A-C
MyVariant Identifiers: chr11:g.102824903A>C (hg19) chr11:g.102954174A>C (hg38)
PubMed: PMID:13915518 PMID:24648384
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102954174A>C , CM000673.2:g.102954174A>C GRCh38
NC_000011.9:g.102824903A>C , CM000673.1:g.102824903A>C GRCh37
NC_000011.8:g.102330113A>C NCBI36
NG_021404.1:g.6561T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.619T>G MANE Select ENSP00000260302.3:p.Trp207Gly
ENST00000260302.7:c.619T>G ENSP00000260302.3:p.Trp207Gly
ENST00000340273.4:c.619T>G ENSP00000339672.4:p.Trp207Gly
ENST00000615555.4:c.619T>G ENSP00000482883.1:p.Trp207Gly
NM_002427.3:c.619T>G NP_002418.1:p.Trp207Gly
NM_002427.4:c.619T>G MANE Select NP_002418.1:p.Trp207Gly
Search 100 bp 5'
Search 100 bp 3'