Canonical Allele Identifier: CA6251674
Gene: MMP13 HGNC NCBI

Linked Data

ClinVar Variation Id: 301974
ClinVar RCV Id: RCV000276220 RCV000370540 RCV000988628 RCV001054763
dbSNP Id: rs142064825
ExAC: 11:102815039 G / A
gnomAD v2: 11-102815039-G-A
gnomAD v3: 11-102944310-G-A
gnomAD v4: 11-102944310-G-A
MyVariant Identifiers: chr11:g.102815039G>A (hg19) chr11:g.102944310G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102944310G>A , CM000673.2:g.102944310G>A GRCh38
NC_000011.9:g.102815039G>A , CM000673.1:g.102815039G>A GRCh37
NC_000011.8:g.102320249G>A NCBI36
NG_021404.1:g.16425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260302.8:c.1372C>T MANE Select ENSP00000260302.3:p.Arg458Cys
ENST00000260302.7:c.1372C>T ENSP00000260302.3:p.Arg458Cys
ENST00000615555.4:c.1140-155C>T ENSP00000482883.1:n.1140-155C>T
NM_002427.3:c.1372C>T NP_002418.1:p.Arg458Cys
NM_002427.4:c.1372C>T MANE Select NP_002418.1:p.Arg458Cys
Search 100 bp 5'
Search 100 bp 3'