Canonical Allele Identifier: CA2744828
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186615775G>A
GRCh37 chr3:g.186333564G>A
Revel Score:
ENST00000411641 (MANE Select) 0.314
ENST00000541510 0.314
ENST00000273784 0.314
gnomAD v2:
3:186333564 G / A
gnomAD v3:
3:186615775 G / A
gnomAD v4:
chr3-186615775-G-A
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV004246782
ClinVar Variation:
2410659
dbSNP:
750328046
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186615775G>A , CM000665.2:g.186615775G>A GRCh38
NC_000003.11:g.186333564G>A , CM000665.1:g.186333564G>A GRCh37
NC_000003.10:g.187816258G>A NCBI36
NG_011436.1:g.7715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.304G>A MANE Select ENSP00000393887.2:p.Val102Met
ENST00000273784.5:c.304G>A ENSP00000273784.5:p.Val102Met
ENST00000411641.6:c.304G>A ENSP00000393887.2:p.Val102Met
ENST00000478441.1:n.361G>A
NM_001622.2:c.304G>A NP_001613.2:p.Val102Met
NM_001354571.1:c.304G>A NP_001341500.1:p.Val102Met
NM_001354572.1:c.301G>A NP_001341501.1:p.Val101Met
NM_001354573.1:c.304G>A NP_001341502.1:p.Val102Met
NM_001622.3:c.304G>A NP_001613.2:p.Val102Met
NM_001622.4:c.304G>A MANE Select NP_001613.2:p.Val102Met
NM_001354571.2:c.304G>A NP_001341500.1:p.Val102Met
NM_001354572.2:c.301G>A NP_001341501.1:p.Val101Met
NM_001354573.2:c.304G>A NP_001341502.1:p.Val102Met
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