Canonical Allele Identifier: CA186146
Gene: MMP13 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.102954174A>C
GRCh37 chr11:g.102824903A>C
Revel Score:
ENST00000260302 (MANE Select) 0.840
ENST00000546012 0.840
ENST00000340273 0.840
gnomAD v2:
11:102824903 A / C
gnomAD v3:
11:102954174 A / C
gnomAD v4:
chr11-102954174-A-C
Joint Max Group AF 0.0000656 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.00006324 (NFE)
JSON-LD

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'