Canonical Allele Identifier: CA382229289
Gene: MMP13 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.102952117G>C
GRCh37 chr11:g.102822846G>C
Revel Score:
ENST00000260302 (MANE Select) 0.908
ENST00000546012 0.908
ENST00000340273 0.908
gnomAD v3:
11:102952117 G / C
gnomAD v4:
chr11-102952117-G-C
Joint Max Group AF 0.00004369 (SAS)
Exomes Max Group AF 0.00003766 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102952117G>C , CM000673.2:g.102952117G>C GRCh38
NC_000011.9:g.102822846G>C , CM000673.1:g.102822846G>C GRCh37
NC_000011.8:g.102328056G>C NCBI36
NG_021404.1:g.8618C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.694C>G MANE Select ENSP00000260302.3:p.His232Asp
ENST00000260302.7:c.694C>G ENSP00000260302.3:p.His232Asp
ENST00000340273.4:c.694C>G ENSP00000339672.4:p.His232Asp
ENST00000615555.4:c.694C>G ENSP00000482883.1:p.His232Asp
NM_002427.3:c.694C>G NP_002418.1:p.His232Asp
NM_002427.4:c.694C>G MANE Select NP_002418.1:p.His232Asp
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