Canonical Allele Identifier: CA6251398
Gene: MMP12 HGNC NCBI
gnomAD v2:
11:102736642 T / G
gnomAD v3:
11:102865911 T / G
gnomAD v4:
chr11-102865911-T-G
Joint Max Group AF 0.00128142 (SAS)
Genomes Max Group AF 0.0004082 (SAS)
Exomes Max Group AF 0.0012992 (SAS)
dbSNP:
652438
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102865911T>G , CM000673.2:g.102865911T>G GRCh38
NC_000011.9:g.102736642T>G , CM000673.1:g.102736642T>G GRCh37
NC_000011.8:g.102241852T>G NCBI36
NG_032936.1:g.14124A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000571244.3:c.1070A>C MANE Select ENSP00000458585.1:p.Asn357Thr
ENST00000571244.2:c.1070A>C ENSP00000458585.1:p.Asn357Thr
NM_002426.4:c.1070A>C NP_002417.2:p.Asn357Thr
NM_002426.5:c.1070A>C NP_002417.2:p.Asn357Thr
NM_002426.6:c.1070A>C MANE Select NP_002417.2:p.Asn357Thr
Search 100 bp 5'
Search 100 bp 3'