Canonical Allele Identifier: CA2745046
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186620640G>A
GRCh37 chr3:g.186338429G>A
Revel Score:
ENST00000411641 (MANE Select) 0.091
ENST00000541510 0.091
ENST00000273784 0.091
gnomAD v2:
3:186338429 G / A
gnomAD v3:
3:186620640 G / A
gnomAD v4:
chr3-186620640-G-A
Joint Max Group AF 0.00014362 (AFR)
Genomes Max Group AF 0.00013017 (AFR)
Exomes Max Group AF 0.00009753 (AFR)
ClinVar RCV:
RCV004242767
ClinVar Variation:
2411213
dbSNP:
146649814
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620640G>A , CM000665.2:g.186620640G>A GRCh38
NC_000003.11:g.186338429G>A , CM000665.1:g.186338429G>A GRCh37
NC_000003.10:g.187821123G>A NCBI36
NG_011436.1:g.12580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.814G>A MANE Select ENSP00000393887.2:p.Val272Met
ENST00000273784.5:c.817G>A ENSP00000273784.5:p.Val273Met
ENST00000411641.6:c.814G>A ENSP00000393887.2:p.Val272Met
NM_001622.2:c.814G>A NP_001613.2:p.Val272Met
NM_001354571.1:c.817G>A NP_001341500.1:p.Val273Met
NM_001354572.1:c.811G>A NP_001341501.1:p.Val271Met
NM_001354573.1:c.730G>A NP_001341502.1:p.Val244Met
NM_001622.3:c.814G>A NP_001613.2:p.Val272Met
NM_001622.4:c.814G>A MANE Select NP_001613.2:p.Val272Met
NM_001354571.2:c.817G>A NP_001341500.1:p.Val273Met
NM_001354572.2:c.811G>A NP_001341501.1:p.Val271Met
NM_001354573.2:c.730G>A NP_001341502.1:p.Val244Met
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