Canonical Allele Identifier: CA13573756
Gene: MMP13 HGNC NCBI
gnomAD v2:
11:102825091 T / G
gnomAD v3:
11:102954362 T / G
gnomAD v4:
chr11-102954362-T-G
Joint Max Group AF 0.72151661 (AFR)
Genomes Max Group AF 0.7159982 (AFR)
Exomes Max Group AF 0.72368241 (AFR)
ClinVar RCV:
RCV001692631
ClinVar Variation:
1277474
dbSNP:
640198
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102954362T>G , CM000673.2:g.102954362T>G GRCh38
NC_000011.9:g.102825091T>G , CM000673.1:g.102825091T>G GRCh37
NC_000011.8:g.102330301T>G NCBI36
NG_021404.1:g.6373A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.512-81A>C MANE Select ENSP00000260302.3:n.512-81A>C
ENST00000260302.7:c.512-81A>C ENSP00000260302.3:n.512-81A>C
ENST00000340273.4:c.512-81A>C ENSP00000339672.4:n.512-81A>C
ENST00000615555.4:c.512-81A>C ENSP00000482883.1:n.512-81A>C
NM_002427.3:c.512-81A>C NP_002418.1:n.512-81A>C
NM_002427.4:c.512-81A>C MANE Select NP_002418.1:n.512-81A>C
Search 100 bp 5'
Search 100 bp 3'