Canonical Allele Identifier: CA126165
Gene: AHSG HGNC NCBI
COSMIC:
COSM4002546 (not active)
MyVariant.info:
GRCh38 chr3:g.186620593G>C
GRCh37 chr3:g.186338382G>C
Revel Score:
ENST00000411641 (MANE Select) 0.005
ENST00000541510 0.005
ENST00000273784 0.005
gnomAD v2:
3:186338382 G / C
gnomAD v3:
3:186620593 G / C
gnomAD v4:
chr3-186620593-G-C
Joint Max Group AF 0.81755971 (MID)
Genomes Max Group AF 0.77524196 (SAS)
Exomes Max Group AF 0.81673189 (MID)
ClinVar RCV:
RCV000017419
RCV001548865
ClinVar Variation:
16044
dbSNP:
4918
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620593G>C , CM000665.2:g.186620593G>C GRCh38
NC_000003.11:g.186338382G>C , CM000665.1:g.186338382G>C GRCh37
NC_000003.10:g.187821076G>C NCBI36
NG_011436.1:g.12533G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.767G>C MANE Select ENSP00000393887.2:p.Ser256Thr
ENST00000273784.5:c.770G>C ENSP00000273784.5:p.Ser257Thr
ENST00000411641.6:c.767G>C ENSP00000393887.2:p.Ser256Thr
NM_001622.2:c.767G>C NP_001613.2:p.Ser256Thr
NM_001354571.1:c.770G>C NP_001341500.1:p.Ser257Thr
NM_001354572.1:c.764G>C NP_001341501.1:p.Ser255Thr
NM_001354573.1:c.683G>C NP_001341502.1:p.Ser228Thr
NM_001622.3:c.767G>C NP_001613.2:p.Ser256Thr
NM_001622.4:c.767G>C MANE Select NP_001613.2:p.Ser256Thr
NM_001354571.2:c.770G>C NP_001341500.1:p.Ser257Thr
NM_001354572.2:c.764G>C NP_001341501.1:p.Ser255Thr
NM_001354573.2:c.683G>C NP_001341502.1:p.Ser228Thr
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