Canonical Allele Identifier: CA7061137
Gene: PROZ HGNC NCBI
PCID2 HGNC NCBI
COSMIC:
COSM4987747 (not active)
MyVariant.info:
GRCh38 chr13:g.113171786G>A
GRCh37 chr13:g.113826100G>A
Revel Score:
ENST00000375547 (MANE Select) 0.269
ENST00000342783 0.269
gnomAD v2:
13:113826100 G / A
gnomAD v3:
13:113171786 G / A
gnomAD v4:
chr13-113171786-G-A
Joint Max Group AF 0.03511199 (NFE)
Genomes Max Group AF 0.03551728 (NFE)
Exomes Max Group AF 0.03502306 (NFE)
ClinVar RCV:
RCV003972287
ClinVar Variation:
3056128
dbSNP:
3024772
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113171786G>A , CM000675.2:g.113171786G>A GRCh38
NC_000013.10:g.113826100G>A , CM000675.1:g.113826100G>A GRCh37
NC_000013.9:g.112874101G>A NCBI36
NG_031993.1:g.18133G>A
NG_031993.2:g.18133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342783.5:c.950G>A (PROZ) ENSP00000344458.4:p.Arg317His
ENST00000375547.7:c.884G>A (PROZ) MANE Select ENSP00000364697.2:p.Arg295His
ENST00000342783.4:c.950G>A (PROZ) ENSP00000344458.4:p.Arg317His
ENST00000375547.6:c.884G>A (PROZ) ENSP00000364697.2:p.Arg295His
NM_001256134.1:c.950G>A (PROZ) NP_001243063.1:p.Arg317His
NM_003891.2:c.884G>A (PROZ) NP_003882.1:p.Arg295His
XM_011537525.1:c.1094G>A (PROZ) XP_011535827.1:p.Arg365His
XM_017020812.1:c.1085G>A (PROZ) XP_016876301.1:p.Arg362His
XM_017020813.1:c.889+61G>A (PROZ) XP_016876302.1:n.889+61G>A
XR_001749631.1:n.2237C>T (PCID2)
NM_003891.3:c.884G>A (PROZ) MANE Select NP_003882.1:p.Arg295His
NM_001256134.2:c.950G>A (PROZ) NP_001243063.1:p.Arg317His
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