Canonical Allele Identifier: CA2744917
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186617313A>G
GRCh37 chr3:g.186335102A>G
Revel Score:
ENST00000411641 (MANE Select) 0.046
ENST00000541510 0.046
ENST00000273784 0.046
gnomAD v2:
3:186335102 A / G
gnomAD v3:
3:186617313 A / G
gnomAD v4:
chr3-186617313-A-G
Joint Max Group AF 0.00011212 (AFR)
Genomes Max Group AF 0.00013054 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
ClinVar RCV:
RCV004257782
ClinVar Variation:
2462886
dbSNP:
370989005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186617313A>G , CM000665.2:g.186617313A>G GRCh38
NC_000003.11:g.186335102A>G , CM000665.1:g.186335102A>G GRCh37
NC_000003.10:g.187817796A>G NCBI36
NG_011436.1:g.9253A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.536A>G MANE Select ENSP00000393887.2:p.Asn179Ser
ENST00000273784.5:c.539A>G ENSP00000273784.5:p.Asn180Ser
ENST00000411641.6:c.536A>G ENSP00000393887.2:p.Asn179Ser
ENST00000478441.1:n.593A>G
NM_001622.2:c.536A>G NP_001613.2:p.Asn179Ser
NM_001354571.1:c.539A>G NP_001341500.1:p.Asn180Ser
NM_001354572.1:c.533A>G NP_001341501.1:p.Asn178Ser
NM_001354573.1:c.536A>G NP_001341502.1:p.Asn179Ser
NM_001622.3:c.536A>G NP_001613.2:p.Asn179Ser
NM_001622.4:c.536A>G MANE Select NP_001613.2:p.Asn179Ser
NM_001354571.2:c.539A>G NP_001341500.1:p.Asn180Ser
NM_001354572.2:c.533A>G NP_001341501.1:p.Asn178Ser
NM_001354573.2:c.536A>G NP_001341502.1:p.Asn179Ser
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