Canonical Allele Identifier: CA388797992
Gene: PROZ HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.113160151G>C
GRCh37 chr13:g.113814465G>C
Revel Score:
ENST00000375547 (MANE Select) 0.910
ENST00000342783 0.910
gnomAD v2:
13:113814465 G / C
gnomAD v4:
chr13-113160151-G-C
Joint Max Group AF 0.00001425 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000022728
ClinVar Variation:
29850
dbSNP:
3024778
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113160151G>C , CM000675.2:g.113160151G>C GRCh38
NC_000013.10:g.113814465G>C , CM000675.1:g.113814465G>C GRCh37
NC_000013.9:g.112862466G>C NCBI36
NG_031993.1:g.6498G>C
NG_031993.2:g.6498G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342783.5:c.274G>C ENSP00000344458.4:p.Glu92Gln
ENST00000375547.7:c.208G>C MANE Select ENSP00000364697.2:p.Glu70Gln
ENST00000342783.4:c.274G>C ENSP00000344458.4:p.Glu92Gln
ENST00000375547.6:c.208G>C ENSP00000364697.2:p.Glu70Gln
NM_001256134.1:c.274G>C NP_001243063.1:p.Glu92Gln
NM_003891.2:c.208G>C NP_003882.1:p.Glu70Gln
XM_011537525.1:c.418G>C XP_011535827.1:p.Glu140Gln
XM_017020812.1:c.409G>C XP_016876301.1:p.Glu137Gln
XM_017020813.1:c.274G>C XP_016876302.1:p.Glu92Gln
XR_001749707.1:n.395G>C
XR_001749708.1:n.395G>C
XR_001749709.1:n.395G>C
NM_003891.3:c.208G>C MANE Select NP_003882.1:p.Glu70Gln
NM_001256134.2:c.274G>C NP_001243063.1:p.Glu92Gln
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