Canonical Allele Identifier: CA2745044
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186620636A>C
GRCh37 chr3:g.186338425A>C
gnomAD v2:
3:186338425 A / C
gnomAD v3:
3:186620636 A / C
gnomAD v4:
chr3-186620636-A-C
Joint Max Group AF 0.89467251 (MID)
Genomes Max Group AF 0.84256211 (AFR)
Exomes Max Group AF 0.89415953 (MID)
ClinVar Allele:
1178893
ClinVar RCV:
RCV001548987
ClinVar Variation:
1188909
dbSNP:
1071592
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620636A>C , CM000665.2:g.186620636A>C GRCh38
NC_000003.11:g.186338425A>C , CM000665.1:g.186338425A>C GRCh37
NC_000003.10:g.187821119A>C NCBI36
NG_011436.1:g.12576A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.810A>C MANE Select ENSP00000393887.2:p.Thr270=
ENST00000273784.5:c.813A>C ENSP00000273784.5:p.Thr271=
ENST00000411641.6:c.810A>C ENSP00000393887.2:p.Thr270=
NM_001622.2:c.810A>C NP_001613.2:p.Thr270=
NM_001354571.1:c.813A>C NP_001341500.1:p.Thr271=
NM_001354572.1:c.807A>C NP_001341501.1:p.Thr269=
NM_001354573.1:c.726A>C NP_001341502.1:p.Thr242=
NM_001622.3:c.810A>C NP_001613.2:p.Thr270=
NM_001622.4:c.810A>C MANE Select NP_001613.2:p.Thr270=
NM_001354571.2:c.813A>C NP_001341500.1:p.Thr271=
NM_001354572.2:c.807A>C NP_001341501.1:p.Thr269=
NM_001354573.2:c.726A>C NP_001341502.1:p.Thr242=
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